Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.

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Article

Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.

American journal of medical genetics - 13 Mar 2000

Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K

Abstract excerpt

Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of glucose-6-phosphatase (G6Pase) that is expressed in the liver, kidney, and intestinal mucosa. Clinical manifestations include short stature, hepatomegaly, hypoglycemia, hyperuricemia, and lactic acidemia. To elucidate a spectrum of the G6Pase gene mutations and their frequencies, we...

Topics

Alleles
Alternative Splicing
Cell Line, Transformed
Exons
Female
Genotype
Glucose-6-Phosphatase
Glycogen Storage Disease Type I
Humans
Japan

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Leukocytes

Male

Mutation

Pedigree

Point Mutation

RNA Splicing

RNA, Messenger

Reverse Transcriptase Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 10748407

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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