ArticleJournal of inherited metabolic disease1995
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.
Article in Journal of inherited metabolic disease, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 33 citations in OpenAlex.
- Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non-consanguinity communities.Orphanet journal of rare diseases · 2020Article
- Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib.Genetics and molecular biology · 2013Article
- Total oxidant-scavenging capacities of plasma from glycogen storage disease type Ia patients as measured by cyclic voltammetry, FRAP and luminescence techniques.Journal of inherited metabolic disease · 2009Article
- Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.Human mutation · 2008Review
- Glycogen storage disease type Ia: frequency and clinical course in Turkish children.Indian journal of pediatrics · 2000Article
- Glycogen storage disease type 1a in three siblings with the G270V mutation.Journal of inherited metabolic disease · 1999Article
- Mutation analysis in 24 French patients with glycogen storage disease type 1a.Journal of medical genetics · 1996Article
- Verification of diagnosis in a 17-year-old boy with clinical glycogen storage disease type Ia by mutation screening.Journal of inherited metabolic disease · 1996Article
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Authors and funding
5 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Glycogen storage disease type 1a (GSD 1a), an autosomal recessive disease, is caused by the inactivity of glucose-6-phosphatase, the gene of which has been recently cloned. We report on the missense mutation C-->T at nucleotide 326 of the G6Pase gene, causing the change of the Arg codon at position 83 into a Cys codon, as the single mutation detected in six Jewish patients. This finding suggests that this mutation might be prevalent among the Jewish population. A new missense mutation T-->G at nucleotide 576 resulting in V166G was found in an Arab Muslim patient. These families may benefit now from pre- and postnatal diagnosis by analysis of DNA from blood and amniotic fluid or chorionic villus cells rather than liver biopsy. No mutations in the G6Pase gene were detected in two GSD 1b patients.
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