Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab-Reference-Cited by-同舟云学术

Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab

Published:1995 Issue:1 Volume:18 Page:21-27
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Parvari R.,Moses S.,Hershkovitz E.,Carmi R.,Bashan N.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF00711368

Reference16 articles.

1. Beaudet AL (1991) The glycogen storage diseases. In Wilson JD, Braunwald E, Isselbacher KJ, et al, eds.Harrison's Principles of Internal Medicine, 12th edn. New York: McGraw-Hill, 1854?1860.

2. Burchell A (1990) Molecular pathology of glucose-6-phosphatase.FASEB J 4: 2978?2988.

3. Burchell A, Hume R, Burchell B (1988) A new microtechnique for the analysis of human hepatic microsomal glucose-6-phosphatase system.Clin Chim Acta 173: 183?192.

4. Chou JY, Lei KJ, Shelly LL (1994) Mutations in the glcose-6-phosphatase gene that cause glycogen storage disease type 1a.The VI International Congress of Inborn Errors of Metabolism, Milan, Italy, Abstract W27.1.

5. Hers HG, Van Hoof F, de Barsy T (1989) In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic Basis of Inherited Disease, 6th edn. New York: McGraw-Hill, 425?452.

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