Article
Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.
Hepatology (Baltimore, Md.) - 1 Sept 2013
Scott Stuart A, Liu Benny, Nazarenko Irina, Martis Suparna, Kozlitina Julia, Yang Yao, Ramirez Charina, Kasai Yumi, Hyatt Tommy, Peter Inga, Desnick Robert J
Abstract excerpt
UNLABELLED: Cholesteryl ester storage disease (CESD) and Wolman disease are autosomal recessive later-onset and severe infantile disorders, respectively, which result from the deficient activity of lysosomal acid lipase (LAL). LAL is encoded by LIPA (10q23.31) and the most common mutation associated with CESD is an exon 8 splice junction mutation (c.894G>A; E8SJM), which expresses only ∼3%-5% of normally spliced...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.