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Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds

Abstract: Tangier disease (TD) is an autosomal co-dominant disorder in which homozygotes have a marked deficiency of high density lipoprotein (HDL) cholesterol and, in some cases, peripheral neuropathy and premature coronary heart disease (CHD). Homozygotes are further characterized by cholesteryl e...

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Main Authors: Margaret E. Brousseau, Ernst J. Schaefer, Josee Dupuis, Brenda Eustace, Paul Van Eerdewegh, Allison L. Goldkamp, Lisa M. Thurston, Michael G. FitzGerald, Diane Yasek-McKenna, Gilmore O'Neill, Gretchen P. Eberhart, Barbara Weiffenbach, Jose M. Ordovas, Mason W. Freeman, Robert H. Brown, Jr., Jessie Z. Gu
Format: Artigo
Language:Inglês
Published: Elsevier 2000-03-01
Series:Journal of Lipid Research
Subjects:
ATP-binding cassette
apolipoprotein
cholesterol
high density lipoprotein
Tangier disease
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520344825
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