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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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5103295/
https://ncbi.nlm.nih.gov/pubmed/27830735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep36823
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