Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: Correlation between genotype/phenotype/copper ATPase activity
Rajendra Prasad
Molecular and Cellular Biochemistry, 2007
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Middle-aged heterozygous carriers of Wilson’s disease do not present with significant phenotypic deviations related to copper metabolism
Tadeusz Mendel
Journal of Genetics, 2010
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Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses
S. Lutsenko
The American Journal of Human Genetics, 1997
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From clinical and biochemical to molecular genetic diagnosis of Wilson disease in Latvia
Anastasiya Krumina
Russian Journal of Genetics, 2008
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p. P1379S , a benign variant with reduced ATP7B protein level in Wilson Disease
Phi Dương
JIMD Reports, 2020
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Age,sex, but not ATP7B genotype effectively influences the clinical phenotype of Wilson disease
Tudor L Pop
Hepatology (Baltimore, Md.), 2018
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Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype–phenotype correlation in Indian patients
Bhaswar Maity
Human Genetics, 2005
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Analysis of Wilson disease mutations in copper binding domain of ATP7B gene
Tayyaba Shan
PLOS ONE, 2022
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Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity
Luis García Villarreal
Journal of Gastroenterology, 2020
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Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes
Prim de Bie
J Med Genet, 2007
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A Novel Mutation of ATP7B Gene in a Case of Wilson Disease
Özlem Ozdemir
Medicina, 2021
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Analysis of clinical and biochemical spectrum of Wilson Disease patients
Sumreena Mansoor, Asifa Majeed
Indian Journal of Pathology and Microbiology, 2012
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A critical evaluation of copper metabolism in indian wilson’s disease children with special reference to their phenotypes and relatives
Rajendra Prasad
Biological Trace Element Research, 1998
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Haplotype and Mutation Analysis in Japanese Patients with Wilson Disease
van nguyen
American Journal of Human Genetics, 1997
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A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient
Mainak Sengupta
Behavioral and Brain Functions, 2010
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Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin
Maria Pellecchia
Genetic testing, 2007
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Wilson’s Disease: First Report of Two Combined Mutational Variants in a Portuguese Patient
Miguel Trindade
European Journal of Case Reports in Internal Medicine, 2022
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Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report
Masoud Garshasbi
Journal of medical case reports, 2018
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Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia
Marina Svetel
Vojnosanitetski pregled, 2013
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Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein
L. Braiterman, Jamal Alhashemi, S. Lutsenko
Proceedings of the National Academy of Sciences, 2011
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Pearls & Oy-sters: Challenges and Controversies in Wilson Disease
Tamara Fernandez
Neurology
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Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene
jacques callebert
Journal of Trace Elements in Medicine and Biology, 2007
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Wilson disease: Novel mutations in theATP7B gene and clinical correlation in Brazilian patients
Marta Deguti
Human Mutation, 2004
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Long-term follow-up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation
Radan Bruha
2011
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Genotype–phenotype correlation in Italian children with Wilson’s disease
Maria Pastore, Giuseppe Maggiore
Journal of Hepatology, 2009
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