Pathogenicity assessment of LDLR variants in patients with Familial Hypercholesterolemia

Medeiros, A.M.; Alves, A.C.; Etxebarria, A.; Martin, C.; Bourbon, M.

http://hdl.handle.net/10400.18/1636

Utilize este identificador para referenciar este registo.

Nome:	Descrição:	Tamanho:	Formato:
Pathogenicity assessment of LDLR variants in patients with Familial Hypercholesterolemia.pdf		469.11 KB	Adobe PDF	Ver/Abrir

Contacte-nos

Autores

Resumo(s)

Mutations in LDLR gene are the major cause of Familial Hypercholesterolemia (FH) but there are several variants described whose pathogenicity is still unknown. To date 88 different mutations in LDLR have been identified in the Portuguese population most of them, although being present in other populations, don’t have functional studies reported. A previous work recently reported by our group investigated the pathogenicity of five missense LDLR variants by in vitro functional assays and 3 of them severely impaired receptor function. Here we present a novel functional characterization of five LDLR variants (p.Gly76Trp, p.Ala431Thr, p.Gly478Arg, p.Cys698Phe, c.-13A>G) found in Portuguese FH patients, two of them (p.Ala431Thr, p.Gly478Arg) previously described as pathogenic and used as control.

Palavras-chave

Doenças Cardio e Cérebro-vasculares

URI

http://hdl.handle.net/10400.18/1636

Editora

Instituto Nacional de Saúde Doutor Ricardo Jorge, IP

Coleções

DPSPDNT - Posters/abstracts em congressos internacionais

Ver registo completo