The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population-Reference-Cited by-同舟云学术

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The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population

Published:2013-03-13 Issue:11 Volume:21 Page:1308-1311
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Gialluisi Alessandro,Incollu Simona,Pippucci Tommaso,Lepori Maria Barbara,Zappu Antonietta,Loudianos Georgios,Romeo Giovanni

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201343.pdf

Reference23 articles.

1. Tanzi RE, Petrukhin K, Chernov I et al: The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993; 5: 344–350.

2. Ferenci P : Regional distribution of mutations in the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet 2006; 120: 151–159.

3. Ala AP, Walker AP, Ashkan K, Dooley JS, Schilsky ML : Wilson’s disease. Lancet 2007; 369: 397–408.

4. Ferenci P, Caca K, Loudianos G et al: Diagnosis and phenotypic classification of Wilson disease. Final report of the proceedings of the working party at the 8th international meeting on Wilson disease and Menkes disease, Leipzig/Germany, 2001. Liver Int 2003; 23: 139–142.

5. Wilson Disease Mutation Database, University of Alberta http://www.wilsondisease.med.ualberta.ca/database.asp ).

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