Article
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
Atherosclerosis - 1 Jan 2015
Jannes Cinthia E, Santos Raul D, de Souza Silva Pãmela R, Turolla Luciana, Gagliardi Ana C M, Marsiglia Julia D C, Chacra Ana P, Miname Marcio H, Rocha Viviane Z, Filho Wilson Salgado, Krieger Jose E, Pereira Alexandre C
Abstract excerpt
BACKGROUND: There is little knowledge about familial hypercholesterolemia in Brazil. This study presents the first results of genetic cascade screening performed in the city of Sao Paulo. MATERIAL AND METHODS: Two-hundred and forty-eight suspected index cases were initially included. DNA was extracted from peripheral blood and the complete coding sequence of low-density lipoprotein receptor, exon 7 of proprotein...
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