GENOMIC ORGANIZATION OF THE HUMAN LYSOSOMAL ACID LIPASE GENE (LIPA)

被引：51

作者：

ASLANIDIS, C ^{[1
]}

KLIMA, H ^{[1
]}

LACKNER, KJ ^{[1
]}

SCHMITZ, G ^{[1
]}

机构：

[1] UNIV REGENSBURG,INST CLIN CHEM & LAB MED,D-93042 REGENSBURG,GERMANY

来源：

GENOMICS | 1994年 / 20卷 / 02期

关键词：

D O I：

10.1006/geno.1994.1180

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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. (C) 1994 Academic Press, Inc.

引用

页码：329 / 331

页数：3

共 7 条

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