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Article

Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease.

Journal of clinical gastroenterology - 1 Jul 2010

Barada Kassem, El-Atrache Mazen, El-Hajj Ihab I, Rida Khaled, El-Hajjar Jida, Mahfoud Ziyad, Usta Julnar

Abstract excerpt

OBJECTIVE: To determine whether any correlation exists between the phenotype and genotype of 2 Lebanese families with members affected with Wilson disease (WD). BACKGROUND: WD is an autosomal-recessive disorder of copper transport with significant phenotypic diversity. Most patients are compound heterozygous making it difficult to establish a clear link between phenotype and genotype. STUDY: We investigated 14...

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PMID: 20485189
DOI: 10.1097/MCG.0b013e3181ce5138

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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