Article
Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.
Human genetics - 1 Apr 2012
Sakai Haruya, Suzuki Shinichi, Mizuguchi Takeshi, Imoto Kiyotaka, Yamashita Yuki, Doi Hiroshi, Kikuchi Masakazu, Tsurusaki Yoshinori, Saitsu Hirotomo, Miyake Noriko, Masuda Munetaka, Matsumoto Naomichi
Abstract excerpt
Aortic aneurysm and/or dissection (AAD) is a life-threatening condition, and several syndromes are known to be related to AAD. In this study, two new technologies, resequencing array technology (ResAT) and next-generation sequencing (NGS), were used to analyze eight genes associated with syndromic AAD in 70 patients with non-syndromic AAD. Eighteen sequence variants were detected using both ResAT and NGS. In...
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