Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a...
Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report
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Publisher
England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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Contents
Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. Hepatic failure and neuronal degeneration are the major symptoms of Wilson disea...
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Full title
Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_842a1ea65679466dac466528bc80c53b
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_842a1ea65679466dac466528bc80c53b
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ISSN
1752-1947
E-ISSN
1752-1947
DOI
10.1186/s13256-018-1608-0
