Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor
患有小头畸形、癫痫和发育迟缓 (MCSZ) 且伴有高级别脑肿瘤的患者体内存在 DNA 修复基因 PNKP 突变
期刊:Scientific Reports
影响因子:3.8
doi:10.1038/s41598-022-09097-w
Bingcheng Jiang, Cameron Murray, Bonnie L Cole, J N Mark Glover, Gordon K Chan, Jean Deschenes, Rajam S Mani, Sudip Subedi, John D Nerva, Anthony C Wang, Christina M Lockwood, Heather C Mefford, Sarah E S Leary, Jeffery G Ojemann, Michael Weinfeld, Chibawanye I Ene
神经
癫痫
ELISA
FCM
IF
IHC-P
IP
WB
Human
