A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease.

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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-tr...

Topics

Adult
Alleles
Base Sequence
Cholesterol Ester Storage Disease
DNA Primers
Gene Deletion
Humans
Lipase
Lysosomes
Male
Molecular Sequence Data
Sequence Analysis

Source

Open in PubMed

Identifiers

PMID: 7751811

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7751811-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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