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Use of Targeted Exome Sequencing in Genetic Diagnosis of Chinese Familial Hypercholesterolemia

Familial hypercholesterolemia is an autosomal dominant inherited disease characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C). It is mainly caused by mutations of the low-density lipoprotein receptor (LDLR) gene. Currently, the methods of whole genome sequencing or whole exom...

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Detalles Bibliográficos
Autores principales:	Wu, Wen-Feng, Sun, Li-Yuan, Pan, Xiao-Dong, Yang, Shi-Wei, Wang, Lv-Ya
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983231/ https://www.ncbi.nlm.nih.gov/pubmed/24722143 http://dx.doi.org/10.1371/journal.pone.0094697

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