Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing

Familial hypercholesterolaemia (FH) is a serious genetic metabolic disease. We identified a specific family in which the proband had typical homozygous phenotype of FH, but couldn’t detect any mutations in usual pathogenic genes using traditional sequencing. This study is the first attempt to use wh...

Descripción completa

Detalles Bibliográficos
Autores principales: Sun, Li-Yuan, Zhang, Yong-Biao, Jiang, Long, Wan, Ning, Wu, Wen-Feng, Pan, Xiao-Dong, Yu, Jun, Zhang, Feng, Wang, Lu-Ya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468422/
https://www.ncbi.nlm.nih.gov/pubmed/26077743
http://dx.doi.org/10.1038/srep11380

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468422/
https://www.ncbi.nlm.nih.gov/pubmed/26077743
http://dx.doi.org/10.1038/srep11380

Ejemplares similares