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Results: 1-8 |
Results: 8
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency
Authors: Notorangelo, LD Mella, P Jones, A Baisle, GD Savoldi, G Cranston, T Vihinen, M Schumacher, RF
Citation: Ld. Notorangelo et al., Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency, HUM MUTAT, 18(4), 2001, pp. 255-263
SHORT REPORT: A common 2 bp deletion mutation in the glucose-6-phosphatasegene in Indian patients with glycogen storage disease type Ia
Authors: Meaney, C Cranston, T Lee, P Genet, S
Citation: C. Meaney et al., SHORT REPORT: A common 2 bp deletion mutation in the glucose-6-phosphatasegene in Indian patients with glycogen storage disease type Ia, J INH MET D, 24(4), 2001, pp. 517-518
X-Linked lymphoproliferative disease: three atypical cases
Authors: Nistala, K Gilmour, KC Cranston, T Davies, EG Goldblatt, D Gaspar, HB Jones, AM
Citation: K. Nistala et al., X-Linked lymphoproliferative disease: three atypical cases, CLIN EXP IM, 126(1), 2001, pp. 126-130
Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia
Authors: Qasim, W Gilmour, KC Heath, S Ashton, E Cranston, T Thomas, A Finn, A Davies, EG Thrasher, AJ Kinnon, C Jones, A Gaspar, HB
Citation: W. Qasim et al., Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia, BR J HAEM, 113(4), 2001, pp. 861-865
Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency
Authors: Gilmour, KC Cranston, T Loughlin, S Gwyther, J Lester, T Espanol, T Hernandez, M Savoldi, G Davies, EG Abinun, M Kinnon, C Jones, A Gaspar, HB
Citation: Kc. Gilmour et al., Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency, BR J HAEM, 112(3), 2001, pp. 671-676
Defective expression of the interleukin-2/interleukin-15 receptor beta subunit leads to a natural killer cell-deficient form of severe combined immunodeficiency
Authors: Gilmour, KC Fujii, H Cranston, T Davies, EG Kinnon, C Gaspar, HB
Citation: Kc. Gilmour et al., Defective expression of the interleukin-2/interleukin-15 receptor beta subunit leads to a natural killer cell-deficient form of severe combined immunodeficiency, BLOOD, 98(3), 2001, pp. 877-879
Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations
Authors: Genet, S Cranston, T Middleton-Price, HR
Citation: S. Genet et al., Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations, J INH MET D, 23(7), 2000, pp. 669-676
Diagnosis of X-linked lymphoproliferative disease by analysis of SLAM-associated protein expression
Authors: Gilmour, KC Cranston, T Jones, A Goldblatt, D Thrasher, A Kinnon, C Nichols, KE Gaspar, HB
Citation: Kc. Gilmour et al., Diagnosis of X-linked lymphoproliferative disease by analysis of SLAM-associated protein expression, EUR J IMMUN, 30(6), 2000, pp. 1691-1697
Risultati: 1-8 |