Article
A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease.
Journal of lipid research - 1 Feb 1995
Ameis D, Brockmann G, Knoblich R, Merkel M, Ostlund R E, Yang J W, Coates P M, Cortner J A, Feinman S V, Greten H
Abstract excerpt
Cholesteryl ester storage disease (CESD) results from inherited deficiencies of the lysosomal hydrolase, acid lipase (LAL; E.C. 3.1.1.13). To establish the molecular defects in LAL deficiency, two unrelated probands with severely reduced LAL activity were examined. DNA amplification by reverse-transcription polymerase chain reaction and subsequent sequence analysis of LAL cDNA identified two mutant alleles....
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