Structure and mutation analysis of the glycogen storage disease type 1b gene
Open Access
- 2 October 1998
- journal article
- Published by Wiley in FEBS Letters
- Vol. 436 (2) , 247-250
- https://doi.org/10.1016/s0014-5793(98)01129-6
Abstract
Glycogen storage disease (GSD) 1b is the deficiency of endoplasmic reticulum glucose‐6‐phosphate (G6P) transport. We here report the structure of the gene encoding a protein likely to be responsible ...Keywords
This publication has 28 references indexed in Scilit:
- Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q.Journal of Medical Genetics, 1998
- The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23American Journal of Human Genetics, 1998
- Liver Microsomal Transport of Glucose-6-Phosphate, Glucose, and Phosphate in Type 1 Glycogen Storage DiseasesJournal of Clinical Endocrinology & Metabolism, 1998
- Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.Journal of Clinical Investigation, 1995
- Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.Journal of Clinical Investigation, 1994
- Glucose-6-phosphatase proteins of the endoplasmic reticulum (Review)Molecular Membrane Biology, 1994
- Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutationsHuman Mutation, 1993
- The molecular basis of the type 1 glycogen storage diseasesBioEssays, 1992
- The molecular basis of the hepatic microsomal glucose-6-phosphatase systemBiochimica et Biophysica Acta (BBA) - Molecular Cell Research, 1991
- Fine tuning of blood glucose concentrationsTrends in Biochemical Sciences, 1985