Article
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
Proceedings of the National Academy of Sciences of the United States of America - 29 Mar 1994
Anderson R A, Byrum R S, Coates P M, Sando G N
Abstract excerpt
The genomic sequences encoding the human lysosomal acid lipase/cholesteryl esterase (sterol esterase; EC 3.1.1.13) have been isolated and sequenced, and the information has been used to identify mutations in both alleles of the gene from a patient with Wolman disease, an autosomal recessive lysosomal lipid storage disorder. The genomic locus consists of 10 exons spread over 36 kb. The 5' flanking region is...
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