Article
A Novel homozygous missense mutation of melanocortin-4 receptor (MC4R) in a Japanese woman with severe obesity.
Diabetes - 1 Jan 2002
Kobayashi Hiromasa, Ogawa Yoshihiro, Shintani Mitsuyo, Ebihara Ken, Shimodahira Makiko, Iwakura Toshio, Hino Megumu, Ishihara Takashi, Ikekubo Katsuji, Kurahachi Hiroyuki, Nakao Kazuwa
Abstract excerpt
The melanocortin-4 receptor (MC4R) is a member of the seven membrane-spanning G protein-coupled receptor superfamily and signals through the activation of adenylyl cyclase. The MC4R mutations are the most common known monogenic cause of human obesity. However, no such mutations have been found in...
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