Two novel mutations in the ABCG5 gene, c.144 -1G>A and c.1523 delC, in a Mexican family with sitosterolemia.

Abstract excerpt

Sitosterolemia is a disease characterized by an intestinal hyperabsorption of plant sterols and cholesterol. Affected individuals have mutations in both alleles of either ABCG5 or ABCG8 genes, leading to a total loss of one of the proteins and subsequent functional deficiency. We here report a Mexican family with clinical and biochemical features of sitosterolemia carrying 2 new mutations of the ABCG5 gene....

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