Art

J-GLOBAL ID：201202243783959515   Reference number：12A0073821

Paternal mosaicism of an STXBP1 mutation in OS

OSにおけるSTXBP1変異の父系モザイク現象

Author (12)： SAITSU H (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  HOSHINO H (National Center for Child Health and Dev., Tokyo, JPN) ,  KATO M (Yamagata Univ. Fac. of Medicine, Yamagata, JPN) ,  NISHIYAMA K (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  OKADA I (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  YONEDA Y (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  TSURUSAKI Y (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  DOI H (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  MIYAKE N (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  KUBOTA M (National Center for Child Health and Dev., Tokyo, JPN) ,  HAYASAKA K (Yamagata Univ. Fac. of Medicine, Yamagata, JPN) ,  MATSUMOTO N (Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN)
Material： Clinical Genetics  (Clin Genet)
Volume： 80  Issue： 5  Page： 484-488  Publication year： Nov. 2011 
JST Material Number： E0526B  ISSN： 0009-9163  Document type： Article
Country of issue： United States (USA)  Language： ENGLISH (EN)

Terms in the title (3)： Os ,  変異 ,  モザイク現象