Phenotype-Genotype Correlation in Wilson Disease in a Large Lebanese Family: Association of c.2299insC with Hepatic and of p. Ala1003Thr with Neurologic Phenotype

Genotype phenotype correlations in Wilson disease (WD) are best established in homozygous patients or in compound heterozygous patients carrying the same set of mutations. We determined the clinical phenotype of patients with WD carrying the c.2298_2299insC in Exon 8 (c.2299insC) or the p. Ala1003Th...

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Detaylı Bibliyografya
Yayımlandı:PLoS One
Asıl Yazarlar: Usta, Julnar, Wehbeh, Antonios, Rida, Khaled, El-Rifai, Omar, Estiphan, Theresa Alicia, Majarian, Tamar, Barada, Kassem
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2014
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4229086/
https://ncbi.nlm.nih.gov/pubmed/25390358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0109727
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