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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...
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| Publicado no: | Sci Rep |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4468422/ https://ncbi.nlm.nih.gov/pubmed/26077743 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep11380 |
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