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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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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב: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
פורמט: Artigo
שפה:Inglês
יצא לאור: Nature Publishing Group 2016
נושאים:
גישה מקוונת: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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