Article
AGTR2 mutations in X-linked mental retardation.
Science (New York, N.Y.) - 28 Jun 2002
Vervoort Virginie S, Beachem Michael A, Edwards Penny S, Ladd Sydney, Miller Karin E, de Mollerat Xavier, Clarkson Katie, DuPont Barbara, Schwartz Charles E, Stevenson Roger E, Boyd Ellen, Srivastava Anand K
Abstract excerpt
Two angiotensin II (Ang II)-specific receptors, AGTR1 and AGTR2, are expressed in the mammalian brain. Ang II actions on blood pressure regulation, water electrolyte balance, and hormone secretion are primarily mediated by AGTR1. The function of AGTR2 remains unclear. Here, we show that expression of the AGTR2 gene was absent in a female patient with mental retardation (MR) who had a balanced X;7 chromosomal...
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