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

Bằng Van Montfrans, J, Hartman, E, Braun, K, Hennekam, F, Hak, A, Nederkoorn, P, Westendorp, W, Bredius, R, Kollen, W, Scholvinck, E, Legger, G, Meyts, I, Liston, A, Lichtenbelt, K, Giltay, J, Van Haaften, G, De Vries Simons, G, Leavis, H, Nierkens, S, Sanders, C, Van Gijn, M
Xuất bản năm Pediatr Rheumatol Online J (2015)