Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: Correlation between genotype/phenotype/copper ATPase activity-Reference-Cited by-同舟云学术

Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: Correlation between genotype/phenotype/copper ATPase activity

Published:2006-12-08 Issue:1-2 Volume:294 Page:1-10
ISSN:0300-8177
Container-title:Molecular and Cellular Biochemistry
language:en
Short-container-title:Mol Cell Biochem

Author:

Kumar Sandeep,Thapa Baburam,Kaur Gurjit,Prasad Rajendra

Publisher

Springer Science and Business Media LLC

Subject

Cell Biology,Clinical Biochemistry,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s11010-005-9028-z.pdf

Reference40 articles.

1. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW: The Wilson's disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nature Genet 5: 327–337, 1993

2. Tanji RE, Petrukhin K, Chernov I, Pellequer JL Ross B, Gilliam TC: The Wilson disease gene is a copper transporting ATPase with homology to Menkes disease gene, Nature Genet 5: 344–350, 1993

3. Yamaguchi Y, Heiny ME, Gitlin JD: Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem. Biophy. Res. Commun 197: 271–277, 1993

4. Prasad R, Kaur G, Kumar S, Thapa BR: Two novel mutations (2976insA, 4311insA) of ATP7B in a Wilson disease patient coexisting with glucose 6 phosphate dehydrogenase deficiency. J Gastro Hepatol 20: 661–663, 2005

5. Pediatric Liver Study Group of India, Metabolic liver disease in children: Indian scenario. Indian J Pediatr 66: S97, 1999

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