Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

Author(s):
Montfrans, J.M. van; Hartman, E.A.R.; Braun, K.P.J.; Hennekam, E.A.M.; Hak, E.A.; Nederkoorn, P.J.; Westendorp, W.F.; Bredius, R.G.M.; Kollen, W.J.W.; Scholvinck, E.H.; Legger, G.E.; Meyts, I.; Liston, A.; Lichtenbelt, K.D.; Giltay, J.C.; Haaften, G. van; Simons, G.M.D.; Leavis, H.; Sanders, C.J.G.; Bierings, M.B.; Nierkens, S.; Gijn, M.E. van
Published
2016
Publication type
Article / Letter to editor
ADA2CECR1auto-inflammatory diseasevasculitisearly-onset strokelivedo reticularisgenotypephenotype
Date issued
2016-05-31
Language
English
Is part of
Rheumatology (2016), Vol. 55, no. 5, p. 902-910
hdl
1887/111994
doi
10.1093/rheumatology/kev439