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A case of Tangier disease with two novel mutations in the ATP-binding cassette transporter A1 gene

Park HK, Suh SO, Ahn SJ, Jung JO, Park SJ, Kim HJ, Park HD

  • KMID: 2142944
  • Korean J Med.
  • 2010 Feb;78(2):241-246.
Tangier disease (TD) is a rare autosomal recessive disorder of lipoprotein metabolism characterized by extremely low levels of high-density lipoprotein cholesterol (HDL-C) and apolipoprotein (apo) A-I resulting in accumulation of...
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