Article
Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities.
European journal of human genetics : EJHG - 1 May 2001
Lee M H, Gordon D, Ott J, Lu K, Ose L, Miettinen T, Gylling H, Stalenhoef A F, Pandya A, Hidaka H, Brewer B, Kojima H, Sakuma N, Pegoraro R, Salen G, Patel S B
Abstract excerpt
Sitosterolaemia (also known as phytosterolaemia, MIM 210250) is a rare recessive autosomal inherited disorder, characterised by the presence of tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease. The defective gene is hypothesised to play an important role in regulating dietary sterol absorption and biliary secretion, thus defining a molecular mechanism whereby this...
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