Niemann–Pick disease type C
作者:
Laura Liscum,
Judeth Klansek,
期刊:
Current Opinion in Lipidology
(OVID Available online 1998)
卷期:
Volume 9,
issue 2
页码: 131-135
ISSN:0957-9672
年代: 1998
出版商: OVID
数据来源: OVID
摘要:
Niemann–Pick type C (NPC) is an autosomal recessive lysosomal storage disease. Fibroblasts from individuals with Niemann–Pick type C exhibit defective intracellular cholesterol transport. Linkage analysis has led to the recent cloning of the NPC1 gene on human chromosome 18, which is the major disease locus. Analysis of NPC1 reveals homologies with key regulators of cholesterol homeostasis and aDrosophila morphogenreceptor. Curr Opin Lipidol 9:131–135. © 1998 Rapid Science Ltd
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