CAG-encoded polyglutamine length polymorphism in the human genome (Q33285435)

25 July 2017

CAG-encoded polyglutamine length polymorphism in the human genome (English)

1 reference

25 July 2017

Stefanie L Butland

1

0 references

Scott J. Neal

object named as

Scott J Neal

6

0 references

Michael R. Hayden

object named as

Michael R Hayden

11

0 references

Blair R Leavitt

13

object named as

Blair R Leavitt

1 reference

25 July 2017

Rebecca S Devon

2

1 reference

25 July 2017

Yong Huang

3

1 reference

25 July 2017

Carri-Lyn Mead

4

1 reference

25 July 2017

Alison M Meynert

5

1 reference

25 July 2017

Soo Sen Lee

7

1 reference

25 July 2017

Anna Wilkinson

8

1 reference

25 July 2017

George S Yang

9

1 reference

25 July 2017

Macaire M S Yuen

10

1 reference

25 July 2017

Robert A Holt

12

1 reference

25 July 2017

B F Francis Ouellette

14

1 reference

25 July 2017

language of work or name

English

0 references

publication date

22 May 2007

1 reference

25 July 2017

1 reference

25 July 2017

8

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25 July 2017

126

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2164-8-126

25 July 2017

0 references

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In vitro analysis of huntingtin-mediated transcriptional repression reveals multiple transcription factor targets

28 July 2018

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28 July 2018

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Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity

28 July 2018

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28 July 2018

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Replication fork dynamics and dynamic mutations: the fork-shift model of repeat instability

28 July 2018

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Functional insights from the distribution and role of homopeptide repeat-containing proteins

28 July 2018

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An integrative approach to gain insights into the cellular function of human ataxin-2

28 July 2018

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CAG repeat polymorphism within the KCNN3 gene is a significant contributor to susceptibility to anorexia nervosa: a case-control study of female patients and several ethnic groups in the Israeli Jewish population.

28 July 2018

1 reference

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SMARCA2 and THAP11: potential candidates for polyglutamine disorders as evidenced from polymorphism and protein-folding simulation studies

28 July 2018

1 reference

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Structural and functional consequences of glutamine tract variation in the androgen receptor.

28 July 2018

1 reference

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Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes

28 July 2018

1 reference

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Comparative analysis of amino acid repeats in rodents and humans

28 July 2018

1 reference

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Application of eVOC: controlled vocabularies for unifying gene expression data

28 July 2018

1 reference

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Somatic instability of the DNA sequences encoding the polymorphic polyglutamine tract of the AIB1 gene

28 July 2018

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Genew: the Human Gene Nomenclature Database, 2004 updates

28 July 2018

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Cytoscape: a software environment for integrated models of biomolecular interaction networks

28 July 2018

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Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy

28 July 2018

1 reference

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The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence

28 July 2018

1 reference

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Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains

28 July 2018

1 reference

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Structures of trinucleotide repeats in human transcripts and their functional implications.

28 July 2018

1 reference

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eVOC: a controlled vocabulary for unifying gene expression data

28 July 2018

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GoMiner: a resource for biological interpretation of genomic and proteomic data

28 July 2018

1 reference

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Integration of the cytogenetic map with the draft human genome sequence

28 July 2018

1 reference

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Triplet repeats in human genome: distribution and their association with genes and other genomic regions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

FOXP2: novel exons, splice variants, and CAG repeat length stability

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Amino acid runs in eukaryotic proteomes and disease associations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Initial sequencing and analysis of the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Repeat polymorphisms within gene regions: phenotypic and evolutionary implications

28 July 2018

1 reference

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Gene ontology: tool for the unification of biology

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Primer3 on the WWW for general users and for biologist programmers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Tandem repeats finder: a program to analyze DNA sequences

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Mapping and characterization of novel (CAG)n repeat cDNAs from adult human brain derived by the oligo capture method

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

cDNAs with long CAG trinucleotide repeats from human brain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

PicoGreen quantitation of DNA: effective evaluation of samples pre- or post-PCR.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Trinucleotide repeats and long homopeptides in genes and proteins associated with nervous system disease and development

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Direct detection of novel expanded trinucleotide repeats in the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Slipped-strand mispairing: a major mechanism for DNA sequence evolution

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Transcriptional regulation in mammalian cells by sequence-specific DNA binding proteins

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Human genes containing polymorphic trinucleotide repeats

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Length variation of CAG/CAA triplet repeats in 50 genes among 16 inbred mouse strains.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

RNA association and nucleocytoplasmic shuttling by ataxin-1

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Molecular architecture of CAG repeats in human disease related transcripts

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

A prevalent POLG CAG microsatellite length allele in humans and African great apes.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

EnsMart: a generic system for fast and flexible access to biological data

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

An exhaustive DNA micro-satellite map of the human genome using high performance computing.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

The UCSC Genome Browser Database

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Dynamics of CAG repeat loci revealed by the analysis of their variability

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Neurodegeneration. A glutamine-rich trail leads to transcription factors

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

The comparative genomics of polyglutamine repeats: extreme differences in the codon organization of repeat-encoding regions between mammals and Drosophila.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

A role for selection in regulating the evolutionary emergence of disease-causing and other coding CAG repeats in humans and mice.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Amino acid reiterations in yeast are overrepresented in particular classes of proteins and show evidence of a slippage-like mutational process.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Conservation of polyglutamine tract size between mice and humans depends on codon interruption

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Stabilization of microsatellite sequences by variant repeats in the yeast Saccharomyces cerevisiae

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Development of a screening set for new (CAG/CTG)n dynamic mutations

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Statistical significance of sequence patterns in proteins

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1896166

Polymorphism of homopolymeric glutamines in coactivators for nuclear hormone receptors

31 October 2018

1 reference

12 December 2020

Modulation of non-templated nucleotide addition by Taq DNA polymerase: primer modifications that facilitate genotyping

1 reference

12 December 2020

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

1 reference

12 December 2020

Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity

1 reference

12 December 2020

Population variation analysis at nine loci containing expressed trinucleotide repeats

1 reference

12 December 2020

The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population

1 reference

12 December 2020

Effect of CAT or AGG interruptions and CpG methylation on nucleosome assembly upon trinucleotide repeats on spinocerebellar ataxia, type 1 and fragile X syndrome

1 reference

12 December 2020

CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable loci

1 reference

12 December 2020

Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission

1 reference

12 December 2020

Novel CAG/CTG repeat expansion mutations do not contribute to the genetic risk for most cases of bipolar disorder or schizophrenia

1 reference

12 December 2020

Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2164-8-126

1 reference

Dimensions Publication ID

25 July 2017

0 references

1 reference

25 July 2017

1 reference