Chon(Hyongi),Vassilev(Alex),DePamphilis(Melv… Nucleic Acids Res 2009-02-03

...RNASEH2C linked to Aicardi-Goutières Syndrome (AGS), only one, R69W in the RNASEH2C protein, exhibits a significant redu...

Rice(Gillian),Patrick(Teresa),Parmar(Rekha),… Am J Hum Genet 2007-10-30

...RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical ...

Uyur Yalçın(Emek),Maraş Genç(Hülya),Kara(Bül… Turk J Pediatr 0000-00-00

...RNASEH2C mutation and a boy with TREX1 mutation. These cases highlight the importance of considering AGS in the differen...