Impact of genetic testing on low-density lipoprotein cholesterol in patients with familial hypercholesterolemia (GenTLe-FH): a randomised waiting list controlled open-label study protocol

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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Detalhes bibliográficos
Publicado no:BMJ Open
Main Authors: Nomura, Akihiro, Tada, Hayato, Okada, Hirofumi, Nohara, Atsushi, Ishikawa, Hideki, Yoshimura, Kenichi, Kawashiri, Masa-aki
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2018
Assuntos:
Cardiovascular Medicine
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6318585/
https://ncbi.nlm.nih.gov/pubmed/30593551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2018-023636
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