Associated Papers
Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.
Kluska A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2019
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
Guggilla SR et al.
Gene, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Clinical molecular diagnosis of Wilson disease.
Bennett J et al.
Seminars in Liver Disease, 2011
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
Luoma LM et al.
Human Mutation, 2010
High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.
Zappu A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.
Gojová L et al.
Clinical Genetics, 2008
Structure of the ATP binding domain from the Archaeoglobus fulgidus Cu+-ATPase.
Sazinsky MH et al.
The Journal of Biological Chemistry, 2006
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
Loudianos G et al.
Human Mutation, 1999
A study of Wilson disease mutations in Britain.
Curtis D et al.
Human Mutation, 1999
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