ArticleAmerican journal of human genetics1995
Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 69 citations in OpenAlex.
- Glycogen storage disease type Ia complicated by gestational hypertriglyceridemic pancreatitis: A rare case report.BMC pregnancy and childbirth · 2025Article
- A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T.The Journal of clinical investigation · 2023Article
- [A case report of glycogen storage disease type 1a].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2023Article
- A glycogen storage disease type 1a patient with type 2 diabetes.BMC medical genomics · 2022Article
- Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry.Frontiers in pediatrics · 2022Article
- Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.Genetics research · 2022Article
- DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation inInternational journal of neonatal screening · 2021Article
- Glycogen Storage Disease Type Ia Screening Using Dried Blood Spots on Filter Paper: Application of COP-PCR for Detection of the c.648G>T G6PC Gene Mutation.The Kobe journal of medical sciences · 2021Article
- Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.Orphanet journal of rare diseases · 2020Article
- A patient with glycogen storage disease type Ia combined with chronic hepatitis B infection: a case report.BMC medical genetics · 2019Article
- Recent development and gene therapy for glycogen storage disease type Ia.Liver research (Beijing, China) · 2017Article
- Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.Human mutation · 2008Review
- Biased exon/intron distribution of cryptic and de novo 3' splice sites.Nucleic acids research · 2005Article
- Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.Journal of inherited metabolic disease · 1999Article
- Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.The Journal of clinical investigation · 1998Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycogen storage disease (GSD) type 1a (von Gierke disease) is an autosomal recessive disorder caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase). We have identified a novel mutation in the G6Pase gene of a individual with GSD type 1a. The cDNA from the patient's liver revealed a 91-nt deletion in exon 5. The genomic DNA from the patient's white blood cells revealed no deletion or mutation at the splicing junction of intron 4 and exon 5. The 3' splicing occurred 91 bp from the 5' site of exon 5 (at position 732 in the coding region), causing a substitution of a single nucleotide (G to T) at position 727 in the coding region. Further confirmation of the missplicing was obtained by transient expression of allelic minigene constructs into animal cells. Another eight unrelated families of nine Japanese patients were all found to have this mutation. This mutation is a new type of splicing mutation in the G6Pase gene, and 91% of patients and carriers suffering from GSD1a in Japan are detectable with this splicing mutation.
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7668282PMC1801279W1604190798What OpenQuestion holds
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