Genetics of Wilson’s disease: a clinical perspective

No abstract is available for this paper.

• Publication year

  2012

• Venue

  Indian Journal of Gastroenterology

• Publication date

  2012-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s12664-012-0237-6PMID 22941676
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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• R778L, H1069Q, and I1102T mutation study in neurologic Wilson disease.

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• Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease

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• Monozygotic female twins discordant for phenotype of Wilson's disease

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• [Haplotype analysis and possible founder effect at the R778L mutation of the ATP7B gene in Korean patients with Wilson's disease].

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• Serum ceruloplasmin oxidase activity is a sensitive and highly specific diagnostic marker for Wilson's disease.

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• Usefulness of ferroxidase activity of ceruloplasmin in the diagnosis of Wilson’s disease

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• A novel Global Assessment Scale for Wilson's Disease (GAS for WD)

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• Estimation of Wilson's Disease Incidence and Carrier Frequency in the Korean Population by Screening ATP7B Major Mutations in Newborn Filter Papers Using the SYBR Green Intercalator Method Based on the Amplification Refractory Mutation System

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  2008influential reference
• Wilson's disease

  2007cited by this paper
• Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers.

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• Late-onset Wilson's disease.

  2007cited by this paper
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• Introducing single-nucleotide polymorphism markers in the diagnosis of Wilson disease.

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  2006influential reference
• Morbus Wilson: Case report of a two-year-old child as first manifestation

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• Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype–phenotype correlation in Indian patients

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• Apolipoprotein E genotype analysis in Chinese Han ethnic children with Wilson's disease, with a concentration on those homozygous for R778L.

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• Wilson disease in septuagenarian siblings: Raising the bar for diagnosis

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  2003cited by this paper
• Genetic variation in the promoter and 5′ UTR of the copper transporter, ATP7B, in patients with Wilson disease

  2003cited by this paper
• Diagnosis and phenotypic classification of Wilson disease 1

  2003influential reference
• Copper metabolic defects and liver disease: Environmental aspects

  2002cited by this paper
• Two families with Wilson disease in which siblings showed different phenotypes

  2002cited by this paper
• Common mutations of ATP7B in Wilson disease patients from Hungary.

  2002cited by this paper
• Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease

  2001cited by this paper
• TRENDS IN CONSANGUINITY IN SOUTH INDIA

  2001cited by this paper
• Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion.

  2000cited by this paper
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  2000cited by this paper
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  2000cited by this paper
• Localization of the Wilson's disease protein in human liver.

  1999cited by this paper
• Wilson's disease in patients presenting with liver disease: a diagnostic challenge.

  1997cited by this paper
• Molecular basis of pathophysiology of Indian childhood cirrhosis: Role of nuclear copper accumulation in liver

  1996cited by this paper
• Wilson disease and idiopathic copper toxicosis.

  1996cited by this paper
• Endemic Tyrolean infantile cirrhosis: an ecogenetic disorder.

  1996cited by this paper
• Atypical copper cirrhosis in Indian children.

  1995cited by this paper
• Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

  1995cited by this paper
• Haplotypes and mutations in Wilson disease.

  1995cited by this paper
• Improvement of prenatal diagnosis of wilson disease using microsatellite markers

  1994cited by this paper
• The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

  1993cited by this paper
• Allelic association and linkage studies in Wilson disease.

  1993cited by this paper
• The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

  1993cited by this paper
• Mapping, cloning and genetic characterization of the region containing the Wilson disease gene

  1993cited by this paper
• Prenatal diagnosis of Wilson's disease by analysis of DNA polymorphism.

  1992cited by this paper
• Wilson's Disease.

  1991cited by this paper
• Does CSF copper level in Wilson disease reflect copper accumulation in the brain?

  1988cited by this paper
• Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.

  1985cited by this paper
• Fetal growth and parental consanguinity

  1979cited by this paper

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