Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

Volume: 22, Issue: 4, Pages: 352 - 355
Published: Aug 1, 1999
Abstract
Tangier disease (TD) was first discovered nearly 40 years ago in two siblings living on Tangier Island. This autosomal co-dominant condition is characterized in the homozygous state by the absence of HDL-cholesterol (HDL-C) from plasma, hepatosplenomegaly, peripheral neuropathy and frequently premature coronary artery disease (CAD). In heterozygotes, HDL-C levels are about one-half those of normal individuals. Impaired cholesterol efflux from...
Paper Details
Title
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
Published Date
Aug 1, 1999
Volume
22
Issue
4
Pages
352 - 355
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