Article
The natural mutation encoding a C terminus-truncated 5-hydroxytryptamine 2B receptor is a gain of proliferative functions.
Molecular pharmacology - 1 Apr 2005
Deraet Maud, Manivet Philippe, Janoshazi Agnes, Callebert Jacques, Guenther Silke, Drouet Ludovic, Launay Jean-Marie, Maroteaux Luc
Abstract excerpt
Although potentially implicated in several physiological functions, few functional mutations have been identified in the human 5-hydroxytryptamine (HT)(2B) receptor gene. A heterozygous mutation R393X in the 5-HT(2B) receptor was recently identified in a patient diagnosed with pulmonary hypertension after intake of the anorexigenic dexfenfluramine. Although reported to generate a lack of function, this C...
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