Article
Familial hypercholesterolemia in Gran Canaria: Founder mutation effect and high frequency of diabetes.
Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis - 1 Jan 2000
Sánchez-Hernández Rosa M, González-Lleó Ana M, Tugores Antonio, Brito-Casillas Yeray, Civeira Fernando, Boronat Mauro, Wägner Ana
Abstract excerpt
INTRODUCTION: Gran Canaria is a region of genetic isolation of familial hypercholesterolemia due to a founder mutation, p. [Tyr400_Phe402del], in the LDL receptor (LDLR) gene. Initial data suggest that its carriers could have a high prevalence of diabetes. MATERIAL AND METHODS: Patients over 30 years of age with familial hypercholesterolemia and a confirmed mutation in LDLR were recruited from a tertiary hospital...
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