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Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
BACKGROUND: Familial Hypercholesterolaemia (FH) is an autosomal dominant disease, caused by mutations in LDLR, APOB or PCSK9, which results in high levels of LDL-cholesterol (LDL-C) leading to early coronary heart disease. An autosomal recessive form of FH is also known, due to homozygous mutations...
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| Hoofdauteurs: | , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BMJ Group
2012
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3475071/ https://ncbi.nlm.nih.gov/pubmed/23054246 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-101189 |
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