Article
Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.
Human mutation - 1 Apr 2002
Salazar Luis A, Hirata Mario H, Cavalli Selma A, Nakandakare Edna R, Forti Neusa, Diament Jaime, Giannini Sérgio D, Bertolami Marcelo C, Hirata Rosario D C
Abstract excerpt
Low-density lipoprotein receptor (LDLR) gene mutations cause familial hypercholesterol-emia (FH), one of the most common single gene disorders. The spectrum of LDLR mutations in Brazil is not known. The aim of this study was the characterization of LDLR mutations in 35 unrelated Brazilian patients with heterozygous FH. The promoter region, the 18 exons and the flanking intron sequences of the LDLR gene were...
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