Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
PNKP基因突变会导致小头畸形、癫痫和DNA修复缺陷。
期刊:Nature Genetics
影响因子:29
doi:10.1038/ng.526
Shen, Jun; Gilmore, Edward C; Marshall, Christine A; Haddadin, Mary; Reynolds, John J; Eyaid, Wafaa; Bodell, Adria; Barry, Brenda; Gleason, Danielle; Allen, Kathryn; Ganesh, Vijay S; Chang, Bernard S; Grix, Arthur; Hill, R Sean; Topcu, Meral; Caldecott, Keith W; Barkovich, A James; Walsh, Christopher A