Article
Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).
Human genetics - 1 May 1995
Muntoni S, Wiebusch H, Funke H, Ros E, Seedorf U, Assmann G
Abstract excerpt
Deficiency of lysosomal acid lipase is expressed in two distinct recognizable phenotypes. Wolman disease represents the severe early onset form, whereas cholesterol ester storage disease is the more benign late onset type. Previous studies have indicated that compound heterozygosity consisting of a G-->A mutation at the 3'-splice junction of exon 8 (E8SJM-allele) together with a null allele of the gene encoding...
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