Human cholesterol 7alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype.
Pullinger CR; Eng C; Salen G; Shefer S; Batta AK; Erickson SK; Verhagen A; Rivera CR; Mulvihill SJ; Malloy MJ; Kane JP; The Journal Of Clinical Investigation, 2002, vol. 110, issue 1, p 109, ISSN 00219738. ISBN 00219738.

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