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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Hauptverfasser: Futema, Marta, Plagnol, Vincent, Whittall, Ros A, Neil, H Andrew W, Humphries, Steve Eric
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 2012
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Methods
Online Zugang: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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