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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Sci Rep
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2016
Gaiak:
Article
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak