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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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Detalles Bibliográficos
Autores principales:	Németh, Dániel, Árvai, Kristóf, Horváth, Péter, Kósa, János Pál, Tobiás, Bálint, Balla, Bernadett, Folhoffer, Anikó, Krolopp, Anna, Lakatos, Péter András, Szalay, Ferenc
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706913/ https://www.ncbi.nlm.nih.gov/pubmed/26819605 http://dx.doi.org/10.1155/2016/4548039

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