Article
Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: Implications for clinical diagnosis.
Journal of clinical lipidology - 1 Jan 2000
Di Costanzo Alessia, Minicocci Ilenia, D'Erasmo Laura, Commodari Daniela, Covino Stella, Bini Simone, Ghadiri Ameneh, Ceci Fabrizio, Maranghi Marianna, Catapano Alberico L, Gazzotti Marta, Casula Manuela, Montali Anna, Arca Marcello
Abstract excerpt
BACKGROUND: The lack of functional evidence for most variants detected during the molecular screening of patients with clinical familial hypercholesterolemia (FH) makes the definitive diagnosis difficult. METHODS: A total of 552 variants in LDLR, APOB, PCSK9 and LDLRAP1 genes found in 449 mutation-positive FH (FH/M+) patients were considered. Pathogenicity update was performed following the American College of...
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