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
Genomicsjournal_title
Genomicsauthors
Aslanidis C,Klima H,Lackner KJ,Schmitz Gdoi
10.1006/geno.1994.1180subject
Has Abstractpub_date
1994-03-15 00:00:00pages
329-31issue
2eissn
0888-7543issn
1089-8646pii
S0888-7543(84)71180-3journal_volume
20pub_type
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