A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic
- 1 October 1998
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 63 (4), 976-983
- https://doi.org/10.1086/302068
Abstract
No abstract availableKeywords
This publication has 29 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
- Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.JCI Insight, 1995
- Mutations in the Glucose-6-Phosphatase Gene that Cause Glycogen Storage Disease Type 1aScience, 1993
- Defective neutrophil and monocyte functions in glycogen storage disease type Ib: A literature reviewEuropean Journal of Pediatrics, 1993
- Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences of the United States of America, 1989
- Different development changes in latency for two functions of a single membrane bound enzyme Glusoce-6-phophatase activities as a function of ageBiochimica et Biophysica Acta (BBA) - General Subjects, 1979
- A new variant of glycogen storage disease Type I probably due to a defect in the glucose-6-phosphate transport systemBiochemical and Biophysical Research Communications, 1978
- Intramembraneous localization of rat liver microsomal hexose-6-phosphate dehydrogenase and membrane permeability to its substratesBiochimica et Biophysica Acta (BBA) - Enzymology, 1978
- On the involvement of a glucose 6-phosphate transport system in the function of microsomal glucose 6-phosphataseMolecular and Cellular Biochemistry, 1975