Art

J-GLOBAL ID：201302220574718907   Reference number：13A1573297

Whole-Exome Sequencing Identified a Homozygous FNBP4 Mutation in a Family With a Condition Similar to Microphthalmia with Limb Anomalies

全エキソームシークエンシングは四肢異常を伴う小眼球症と類似の疾患群におけるホモ接合性FNBP4突然変異を同定した

Author (14)： KONDO Yukiko (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  KOSHIMIZU Eriko (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  MEGARBANE Andre (St. Joseph Univ., Beirut, LBN) ,  HAMANOUE Haruka (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  OKADA Ippei (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  NISHIYAMA Kiyomi (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  KODERA Hirofumi (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  MIYATAKE Satoko (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  TSURUSAKI Yoshinori (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  NAKASHIMA Mitsuko (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  DOI Hiroshi (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  MIYAKE Noriko (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  SAITSU Hirotomo (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  MATSUMOTO Naomichi (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
Material： American Journal of Medical Genetics. Part A  (Am J Med Genet Part A)
Volume： 161  Issue： 7  Page： 1543-1546  Publication year： Jul. 2013 
JST Material Number： E0725C  ISSN： 1552-4825  Document type： Article
Country of issue： United States (USA)  Language： ENGLISH (EN)

Terms in the title (8)： 全エキソームシークエンシング ,  肢異常 ,  小眼球症 ,  類似 ,  疾患 ,  ホモ接合性 ,  突然変異 ,  同定