Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease

Objective. Wilson's disease is a disorder of copper metabolism which is fatal without treatment. The great number of disease-causing ATP7B gene mutations and the variable clinical presentation of WD may cause a real diagnostic challenge. The emergence of next-generation sequencing provides a ti...

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Detalhes bibliográficos
Publicado no:Gastroenterol Res Pract
Main Authors: Németh, Dániel, Árvai, Kristóf, Horváth, Péter, Kósa, János Pál, Tobiás, Bálint, Balla, Bernadett, Folhoffer, Anikó, Krolopp, Anna, Lakatos, Péter András, Szalay, Ferenc
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4706913/
https://ncbi.nlm.nih.gov/pubmed/26819605
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/4548039
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