DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome
Özçakar ZB, Foster J 2nd, Diaz-Horta O, Kasapcopur O, Fan YS, Yalçınkaya F, Tekin M
Arthritis Rheum · 2013
Key Findings
- ●Identified DNASE1L3 loss-of-function mutations as the genetic cause of familial HUVS
- ●Homozygous frameshift mutation c.289_290delAC in one family
- ●Autosomal recessive inheritance pattern established
Referenced in (1 disease)
Validation history
Full log →No validation events recorded yet. Source will be checked on the next kipine-source-validator run.
ID: pmid-23666765DOI: 10.1002/art.38010PMID: 23666765