Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.

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Title: Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.
Authors: Usta J; Department of Biochemistry and Molecular Genetics; Faculty of Medicine, American University of Beirut, Beirut, Lebanon., Wehbeh A; Faculty of Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Rida K; Department of Biochemistry and Molecular Genetics; Faculty of Medicine, American University of Beirut, Beirut, Lebanon., El-Rifai O; Department of Biochemistry and Molecular Genetics; Faculty of Medicine, American University of Beirut, Beirut, Lebanon., Estiphan TA; Faculty of Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Majarian T; Department of Biochemistry and Molecular Genetics; Faculty of Medicine, American University of Beirut, Beirut, Lebanon., Barada K; Division of Gastroenterology, Department of Internal Medicine, American University of Beirut Medical Center, Faculty of Medicine, Beirut, Lebanon.
Source: PloS one [PLoS One] 2014 Nov 12; Vol. 9 (11), pp. e109727. Date of Electronic Publication: 2014 Nov 12 (Print Publication: 2014).
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1932-6203
DOI:10.1371/journal.pone.0109727