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

Tangier disease (TD) was first discovered nearly 40 years ago in two siblings living on Tangier Island 1 . 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 pre...

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