Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing.
作者信息
Park Joonhong, Jang Woori, Han Eunhee, Chae Hyojin, Yoo Jaeeun, Kim Yonggoo, Kim Yoo-Jin, Kim Myungshin
机构信息
Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
出版信息
Pediatr Blood Cancer. 2018 Jul;65(7):e27053. doi: 10.1002/pbc.27053. Epub 2018 Mar 30.
PMID:29603612
Abstract
摘要
Zotero 插件