Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.

Abstract excerpt

Cholesteryl ester storage disease (CESD) and Wolman disease (McKusick 278000) are two distinct autosomal recessive disorders, both attributable to a severe reduction in acid cholesteryl ester hydrolase/lysosomal acid lipase activity (EC 3.1.1.13). We have identified compound heterozygous mutations in a family with two siblings affected with CESD. Molecular genetic analysis revealed two mutations one of which has...

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