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Published in 2018 at "BMJ Open"
DOI: 10.1136/bmjopen-2018-023636
Abstract: Introduction Familial hypercholesterolemia (FH) is an autosomal-dominant inherited genetic disease. High-throughput sequencing quickly and comprehensively detects causative variants of FH-related genes (LDLR, PCSK9, APOB and LDLRAP1). Although the presence of causative variants in FH-related genes…
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Keywords:
genetic testing;
list controlled;
waiting list;
study ... See more keywords