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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| Hoofdauteurs: | , , , , |
|---|---|
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Public Library of Science (PLoS)
2014-01-01
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| Reeks: | PLoS ONE |
| Online toegang: | http://europepmc.org/articles/PMC3983231?pdf=render |
| Tags: |
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