Genomic organization of the human lysosomal acid lipase gene (LIPA).

Abstract:

:Defects in the human lysosomal acid lipase gene are responsible for cholesteryl ester storage disease (CESD) and Wolman disease. Exon skipping as the cause for CESD has been demonstrated. We present here a summary of the exon structure of the entire human lysosomal acid lipase gene consisting of 10 exons, together with the sizes of genomic EcoRI and SacI fragments hybridizing to each exon. In addition, the DNA sequence of the putative promoter region is presented. The EMBL accession numbers for adjacent intron sequences are given.

journal_name

Genomics

journal_title

Genomics

authors

Aslanidis C,Klima H,Lackner KJ,Schmitz G

doi

10.1006/geno.1994.1180

subject

Has Abstract

pub_date

1994-03-15 00:00:00

pages

329-31

issue

2

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(84)71180-3

journal_volume

20

pub_type

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