Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis
Chora, Joana Rita, Medeiros, Ana Margarida, Alves, Ana Catarina, Bourbon, MafaldaLangue:
english
Journal:
Genetics in Medicine
DOI:
10.1038/gim.2017.151
Date:
October, 2017
Fichier:
PDF, 459 KB
english, 2017