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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Detalles Bibliográficos
Autores principales: Usta, Julnar, Wehbeh, Antonios, Rida, Khaled, El-Rifai, Omar, Estiphan, Theresa Alicia, Majarian, Tamar, Barada, Kassem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4229086/
https://www.ncbi.nlm.nih.gov/pubmed/25390358
http://dx.doi.org/10.1371/journal.pone.0109727

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4229086/
https://www.ncbi.nlm.nih.gov/pubmed/25390358
http://dx.doi.org/10.1371/journal.pone.0109727

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