High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype–genotype analysis
- 1 November 2001
- journal article
- Published by Elsevier in Journal of Hepatology
- Vol. 35 (5), 575-581
- https://doi.org/10.1016/s0168-8278(01)00219-7
Abstract
No abstract availableKeywords
This publication has 27 references indexed in Scilit:
- Molecular analysis and diagnosis in Japanese patients with Wilson's disease.Pediatrics International, 1999
- Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson diseaseHuman Mutation, 1998
- Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional AnalysesAmerican Journal of Human Genetics, 1997
- Detection of the His1069Gln Mutation in Wilson Disease by Rapid Polymerase Chain ReactionAnnals of Internal Medicine, 1997
- Haplotype and Mutation Analysis in Japanese Patients with Wilson DiseaseAmerican Journal of Human Genetics, 1997
- The Wilson disease gene: spectrum of mutations and their consequencesNature Genetics, 1995
- Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictionsHuman Molecular Genetics, 1994
- The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease geneNature Genetics, 1993
- The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes geneNature Genetics, 1993
- Perspectives on Wilson's diseaseHepatology, 1990