Genotype-Phenotype Correlations in a Mountain Population Community with High Prevalence of Wilson’s Disease: Genetic and Clinical Homogeneity

Wilson’s disease is an autosomal recessive disorder caused by more than 500 mutations in ATP7B gene presenting considerably clinical manifestations heterogeneity even in patients with a particular mutation. Previous findings suggested a potential role of additional genetic modifiers and environment...

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Detalles Bibliográficos
Autores principales: Cocoş, Relu, Şendroiu, Alina, Schipor, Sorina, Bohîlţea, Laurenţiu Camil, Şendroiu, Ionuţ, Raicu, Florina
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/PMC4045667/
https://www.ncbi.nlm.nih.gov/pubmed/24897373
http://dx.doi.org/10.1371/journal.pone.0098520

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4045667/
https://www.ncbi.nlm.nih.gov/pubmed/24897373
http://dx.doi.org/10.1371/journal.pone.0098520

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