Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature

Authors:	Yoko Narumi Sachiko Nishina Motoharu Tokimitsu Yoko Aoki Rika Kosaki Keiko Wakui Noriyuki Azuma Toshinori Murata Fumio Takada Yoshimitsu Fukushima Tomoki Kosho

Affiliation:	1. Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan;2. Department of Medical Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan;3. Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan;4. Department of Ophthalmology, Shinshu University School of Medicine, Matsumoto, Japan;5. Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan;6. Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan

Abstract:

Keywords:	congenital cataract MAF iris coloboma microcornea whole exome sequencing