Mutation analysis in 24 French patients with glycogen storage disease type 1a. (Q24517897)

2 July 2017

title

Mutation analysis in 24 French patients with glycogen storage disease type 1a. (English)

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2 July 2017

main subject

glycogen storage disease

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Chevalier-Porst F

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2 July 2017

Bozon D

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2 July 2017

Bonardot AM

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2 July 2017

Bruni N

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2 July 2017

Mithieux G

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2 July 2017

Mathieu M

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2 July 2017

Maire I

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2 July 2017

language of work or name

English

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publication date

1 May 1996

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Journal of Medical Genetics

2 July 2017

published in

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2 July 2017

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2 July 2017

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2 July 2017

page(s)

358-360

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Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a

2 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050601

Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050601

Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050601

Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050601

Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050601

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050601

Isolation of a cDNA for the catalytic subunit of rat liver glucose-6-phosphatase: regulation of gene expression in FAO hepatoma cells by insulin, dexamethasone and cAMP.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050601

Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050601

Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050601

27 September 2017

Identifiers

DOI

10.1136/JMG.33.5.358

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2 July 2017

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