家族性高胆固醇血症纯合表型致病基因突变分析1例

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing[J] . Steve E. Humphries,Treena Cranston,Marcus Allen,Helen Middleton-Price,Maryam C. Fernandez,Victoria Senior,Emma Hawe,Andrew Iversen,Richard Wray,Martin A. Crook,Anthony S. Wierzbicki.Journal of Molecular Medicine . 2006 (3)

A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene[J] . D. Wang,B. Wu,Y. Li,W. Heng,H. Zhong,Y. Mu,J. Wang.Journal of Human Genetics . 2001 (3)

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing[J] . Steve E. Humphries,Treena Cranston,Marcus Allen,Helen Middleton-Price,Maryam C. Fernandez,Victoria Senior,Emma Hawe,Andrew Iversen,Richard Wray,Martin A. Crook,Anthony S. Wierzbicki.Journal of Molecular Medicine . 2006 (3)

A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene[J] . D. Wang,B. Wu,Y. Li,W. Heng,H. Zhong,Y. Mu,J. Wang.Journal of Human Genetics . 2001 (3)