Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease

Cholesteryl ester storage disease and Wolman disease are rare autosomal recessive lipoprotein-processing disorders caused by mutations in the gene encoding human lysosomal acid lipase. Thus far we have elucidated the genetic defects in 15 unrelated CESD patients. Seven were homozygotes for the preva...

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Bibliographic Details
Main Authors: Peter Lohse, Sylke Maas, Pia Lohse, Milan Elleder, Jean M. Kirk, Guy T.N. Besley, Dietrich Seidel
Format: Article
Language:English
Published: Elsevier 2000-01-01
Series:Journal of Lipid Research
Subjects:
lipid metabolism
lysosomal storage disease
enzyme deficiency
genotype
point mutation
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520320708

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http://www.sciencedirect.com/science/article/pii/S0022227520320708

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