The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia

Familial hypercholesterolemia (FH) is an autosomal dominant disorder. Although genetic testing is an important tool for detecting FH-causing mutations in patients, diagnostic methods for young patients with severe hypercholesterolemia are understudied. This study compares the target exome sequencing...

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Detalles Bibliográficos
Autores principales: Jiang, Long, Wu, Wen-Feng, Sun, Li-Yuan, Chen, Pan-Pan, Wang, Wei, Benito-Vicente, Asier, Zhang, Fan, Pan, Xiao-Dong, Cui, Wei, Yang, Shi-Wei, Zhou, Yu-Jie, Martin, Cesar, Wang, Lu-Ya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5103295/
https://www.ncbi.nlm.nih.gov/pubmed/27830735
http://dx.doi.org/10.1038/srep36823

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