Associated Papers
Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.
Xiao Z et al.
Molecular Genetics & Genomic Medicine, 2021
Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.
Shim JO et al.
Journal of Korean Medical Science, 2018
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
Liu G et al.
Bmc Medical Genetics, 2018
29649982 (PubMed )
Supplement: 12881_2018_567_MOESM2_ESM.docx
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.
Aggarwal A et al.
Annals of Human Genetics, 2013
KMD: Korean Mutation Database for genes related to diseases.
Park MH et al.
Human Mutation, 2012
New novel mutation of the ATP7B gene in a family with Wilson disease.
Lee JY et al.
Journal of the Neurological Sciences, 2012
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