Article
LDLR Gene Mutation p.Asp360His and Familial Hypercholesterolemia in a Mexican Community.
Archives of medical research - 1 Feb 2020
Hernández Flores Teresita De Jesús, González García Juan Ramón, Sánchez López Yoaly Josefina, Vázquez Cárdenas Norma Alejandra, Colima Fausto Ana Gabriela, Rodríguez Preciado Sergio Yair, Magaña Torres María Teresa
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by an increased LDL-cholesterol (LDLc) serum concentration and premature cardiovascular disease. Screening of small populations where at least one homozygous (HoFH) patient has been identified may be a proper approach for detecting FH patients. Previously, we reported an HoFH patient carrying the mutation p.Asp360His...
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