PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly
PUS7基因突变会损害人类的假尿苷化作用,并导致智力障碍和小头畸形。
期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-019-01980-3
Shaheen, Ranad; Tasak, Monika; Maddirevula, Sateesh; Abdel-Salam, Ghada M H; Sayed, Inas S M; Alazami, Anas M; Al-Sheddi, Tarfa; Alobeid, Eman; Phizicky, Eric M; Alkuraya, Fowzan S