Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

@article{Lei1994IdentificationOM,
  title={Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.},
  author={Ke-jian Lei and Chen ‐ Jeih Pan and L L Shelly and Jie Lin Liu and Janice Y Chou},
  journal={The Journal of clinical investigation},
  year={1994},
  volume={93 5},
  pages={1994-9}
}
Glycogen storage disease (GSD) type 1a is an autosomal recessive inborn error of metabolism caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase), the key enzyme in glucose homeostasis. Southern blot hybridization analysis using a panel of human-hamster hybrids showed that human G6Pase is a single-copy gene located on chromosome 17. To correlate specific defects with clinical manifestations of this disorder, we identified mutations in the G6Pase gene of GSD type 1a patients. In… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 24 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 15 references

Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type la

Lei, -J K., +3 authors J. Y. Chou
Science (Wash. DC) • 1993
View 10 Excerpts
Highly Influenced

The glycogen storage disease (gsd/gsd) rat.

Current topics in cellular regulation • 1988
View 4 Excerpts
Highly Influenced

Glycogen storage diseases.

Biochimie • 1972
View 4 Excerpts
Highly Influenced

Glucose-6-phosphatase: two concepts of membrane-function relationship.

Advances in enzymology and related areas of molecular biology • 1989
View 2 Excerpts

Multifunctional glucose-6-phosphatase: a critical review

R. C. Nordlie, K. A. Sukalski
editor. Plenum Publishing Corporation, • 1985
View 2 Excerpts

Similar Papers

Loading similar papers…