Associated Papers
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.
Squitti R et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2014
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
Lepori MB et al.
Molecular and Cellular Probes, 2012
Diverse functional properties of Wilson disease ATP7B variants.
Huster D et al.
Gastroenterology, 2012
Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.
Usta J et al.
Jimd Reports, 2012
Clinical molecular diagnosis of Wilson disease.
Bennett J et al.
Seminars in Liver Disease, 2011
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
Lee BH et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2011
Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease.
Folhoffer A et al.
European Journal of Gastroenterology & Hepatology, 2007
Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene.
Chappuis P et al.
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2007
Structure of the actuator domain from the Archaeoglobus fulgidus Cu(+)-ATPase.
Sazinsky MH et al.
Biochemistry, 2006
[ATP7B gene mutations in Hungarian patients with Wilson disease--case reports to illustrate the diverse clinical presentations].
Folhoffer A et al.
Orvosi Hetilap, 2003
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