Article
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.
American journal of medical genetics. Part A - 15 May 2005
Hirayama-Yamada Kayoko, Kamisago Mitsuhiro, Akimoto Kaoru, Aotsuka Hiroyuki, Nakamura Yoshihide, Tomita Hideshi, Furutani Michiko, Imamura Shin-ichiro, Takao Atsuyoshi, Nakazawa Makoto, Matsuoka Rumiko
Abstract excerpt
Recently, GATA4 and NKX2.5 were reported as the disease genes of atrial septal defect (ASD) but the relationship between the locations of their mutations and phenotypes is not clear. We analyzed GATA4 and NKX2.5 mutations in 16 familial ASD cases, including four probands with atrioventricular conduction disturbance (AV block) and two with pulmonary stenosis (PS), by PCR and direct sequencing, and examined their...
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