Article
Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2013
Kataoka Masaharu, Aimi Yuki, Yanagisawa Ryoji, Ono Masae, Oka Akira, Fukuda Keiichi, Yoshino Hideaki, Satoh Toru, Gamou Shinobu
Abstract excerpt
PURPOSE: The purpose of this study was to undertake thorough genetic analysis of the bone morphogenetic protein type 2 receptor (BMPR2) gene in patients with pulmonary arterial hypertension. METHODS: We conducted a systematic analysis for larger gene rearrangements together with conventional mutation analysis in 152 pulmonary arterial hypertension patients including 43 patients diagnosed as having idiopathic...
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