Wilson Disease Mutation Pattern with Genotype-Phenotype Correlations from Western India: Confirmation of p.C271* as a Common Indian Mutation and Identification of 14 Novel Mutations-Reference-Cited by-同舟云学术

Wilson Disease Mutation Pattern with Genotype-Phenotype Correlations from Western India: Confirmation of p.C271* as a Common Indian Mutation and Identification of 14 Novel Mutations

Published:2013-04-02 Issue:4 Volume:77 Page:299-307
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Aggarwal Annu¹,Chandhok Gursimran¹²,Todorov Theodor²,Parekh Saloni¹,Tilve Sharada¹,Zibert Andree²,Bhatt Mohit¹,Schmidt Hartmut H.-J.²

Affiliation:

1. Wilson Disease Clinic; Kokilaben Dhirubhai Ambani Hospital & Medical Research Institute; Mumbai India

2. Clinic for Transplantation Medicine; Münster University Hospital; Münster Germany

Funder

Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute, Mumbai, India

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12024/fullpdf

Reference29 articles.

1. A novel Global Assessment Scale for Wilson's Disease (GAS for WD);Aggarwal;Mov Disord,2009

2. Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: Association with liver disease;Barada;J Clin Gastroenterol,2010

3. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene;Bull;Nat Genet,1993

4. High prevalence of the H1069Q mutation in East German patients with Wilson disease: Rapid detection of mutations by limited sequencing and phenotype-genotype analysis;Caca;J Hepatol,2001

5. High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease;Chuang;J Med Genet,1996

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