Associated Papers
Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease.
Al-Obaidi RGY et al.
Sultan Qaboos University Medical Journal, 2025
Clinical and genetic characterization of patients with late onset Wilson's disease.
Yang W et al.
Npj Genomic Medicine, 2024
39719440 (PubMed )
Supplement: 41525_2024_459_MOESM1_ESM.pdf
Wilson's disease in Sardinian population: The experience of a pediatric referral center.
Loudianos G et al.
Journal of Pediatric Gastroenterology and Nutrition, 2024
Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
Skrahin A et al.
Life Science Alliance, 2023
36635046 (PubMed )
Supplement: LSA-2022-01673_TableS2.xlsx › Sheet1
Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China.
Jia S et al.
Journal of Clinical Laboratory Analysis, 2022
Muscle stiffness, gait instability, and liver cirrhosis in Wilson's disease.
Kronlage C et al.
Lancet (london, England), 2020
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.
Li X et al.
Human Mutation, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
30275481 (PubMed )
Supplement: 41431_2018_253_MOESM10_ESM.xlsx › Sheet1
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.
Kumari N et al.
Human Mutation, 2018
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.
Gialluisi A et al.
European Journal of Human Genetics : Ejhg, 2013
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
Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.
Cox DW et al.
Human Mutation, 2005
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