A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next-generation sequencing in a Chinese family.
作者信息
Zhao Ru-Qing, Jiang Fan, Li Jian, Zhou Jian-Ying, Tang Xue-Wei, Li Fa-Tao, Chen Li-Qiong, Li Dong-Zhi
机构信息
Panyu Maternal and Children Healthcare Hospital, Hexian Memorial Medical Hospital of Panyu District, Guangzhou, China.
Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center, Guangzhou, China.
出版信息
Int J Lab Hematol. 2021 Dec;43(6):e294-e297. doi: 10.1111/ijlh.13575. Epub 2021 May 11.
PMID:33974364
Abstract
摘要
Zotero 插件