A complex mutable polymorphism located within the fragile X gene. (Q52221941)

27 April 2018

title

A complex mutable polymorphism located within the fragile X gene. (English)

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27 April 2018

author name string

Zhong N

series ordinal

1

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27 April 2018

Dobkin C

series ordinal

2

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27 April 2018

Brown WT

series ordinal

3

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27 April 2018

language of work or name

English

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publication date

1 November 1993

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27 April 2018

published in

Nature Genetics

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27 April 2018

volume

5

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27 April 2018

issue

3

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27 April 2018

page(s)

248-253

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27 April 2018

https://scigraph.springernature.com/pub.10.1038/ng1193-248

exact match

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cites work

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

Mammalian subtilisins: the long-sought dibasic processing endoproteases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

A second-generation linkage map of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

A tetranucleotide repeat mouse minisatellite displaying substantial somatic instability during early preimplantation development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

Absence of expression of the FMR-1 gene in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

Evidence of founder chromosomes in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

The fragile X syndrome: no evidence for any recent mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

Origin of the expansion mutation in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

Slippage synthesis of simple sequence DNA

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

A fundamental division in the Alu family of repeated sequences

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

Survey of human and rat microsatellites.

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

Length and sequence variation in the apolipoprotein B intron 20 Alu repeat.

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

The use of synthetic tandem repeats to isolate new VNTR loci: cloning of a human hypermutable sequence

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

Clues to the pathogenesis of familial colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-248

7 January 2021

Identifiers

DOI

10.1038/NG1193-248

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27 April 2018

PubMed ID

8275089

1 reference

27 April 2018