Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia (Q41108615)

26 September 2017

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Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia (English)

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26 September 2017

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Junko Kanno

1

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26 September 2017

Tim Hutchin

2

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26 September 2017

Fumiaki Kamada

3

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26 September 2017

Ayumi Narisawa

4

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26 September 2017

Yoko Aoki

5

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26 September 2017

Yoichi Matsubara

6

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26 September 2017

Shigeo Kure

7

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26 September 2017

language of work or name

English

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publication date

1 March 2007

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Journal of Medical Genetics

26 September 2017

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26 September 2017

44

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26 September 2017

3

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26 September 2017

e69

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Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Natural history of nonketotic hyperglycinemia in 65 patients

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Alu repeats and human genomic diversity

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Alu elements and the human genome

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Biochemical and molecular investigations of patients with nonketotic hyperglycinemia

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Structure and chromosomal localization of the aminomethyltransferase gene (AMT)

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Hyperglycinemia: A Defect in Glycine Cleavage Reaction

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

The glycine cleavage system: Composition, reaction mechanism, and physiological significance

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Nonketotic hyperglycinemia: biochemical, molecular, and neurological aspects

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Nonketotic hyperglycinemia: clinical and metabolic aspects

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598024

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

19 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17361008

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Assignment of the true and processed genes for human glycine decarboxylase to 9p23-24 and 4q12

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17361008

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

High-frequency Alu-mediated genomic recombination/deletion within the caspase-activated DNase gene in human hepatoma

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17361008

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2006.043448

1 reference

26 September 2017

1 reference

26 September 2017

PubMed publication ID

17361008

1 reference