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Journal Abstract Search
88 related items for PubMed ID: 10573019
1. Revised exon-intron structure of human JAK3 locus. Brooimans RA, van der Slot AJ, van den Berg AJ, Zegers BJ. Eur J Hum Genet; 1999; 7(7):837-40. PubMed ID: 10573019 [Abstract] [Full Text] [Related]
8. Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain. Mella P, Schumacher RF, Cranston T, de Saint Basile G, Savoldi G, Notarangelo LD. Hum Mutat; 2001 Oct 01; 18(4):355-6. PubMed ID: 11668621 [Abstract] [Full Text] [Related]
9. Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency. Notarangelo LD, Mella P, Jones A, de Saint Basile G, Savoldi G, Cranston T, Vihinen M, Schumacher RF. Hum Mutat; 2001 Oct 01; 18(4):255-63. PubMed ID: 11668610 [Abstract] [Full Text] [Related]
10. Complete genomic organization and promoter analysis of the round-spotted pufferfish JAK1, JAK2, JAK3, and TYK2 genes. Leu JH, Yan SJ, Lee TF, Chou CM, Chen ST, Hwang PP, Chou CK, Huang CJ. DNA Cell Biol; 2000 Jul 01; 19(7):431-46. PubMed ID: 10945233 [Abstract] [Full Text] [Related]
11. Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. Schumacher RF, Mella P, Badolato R, Fiorini M, Savoldi G, Giliani S, Villa A, Candotti F, Tampalini A, O'Shea JJ, Notarangelo LD. Hum Genet; 2000 Jan 01; 106(1):73-9. PubMed ID: 10982185 [Abstract] [Full Text] [Related]
12. Isolation and characterization of the murine C-FGR genomic locus: exons IB-XII. Podhipleux N, Willman CL. Oncogene; 1995 Aug 17; 11(4):781-4. PubMed ID: 7651742 [Abstract] [Full Text] [Related]
13. Expression, characterization, and genomic structure of carp JAK1 kinase gene. Chang MS, Chang GD, Leu JH, Huang FL, Chou CK, Huang CJ, Lo TB. DNA Cell Biol; 1996 Oct 17; 15(10):827-44. PubMed ID: 8892755 [Abstract] [Full Text] [Related]
14. Unexpected and variable phenotypes in a family with JAK3 deficiency. Frucht DM, Gadina M, Jagadeesh GJ, Aksentijevich I, Takada K, Bleesing JJ, Nelson J, Muul LM, Perham G, Morgan G, Gerritsen EJ, Schumacher RF, Mella P, Veys PA, Fleisher TA, Kaminski ER, Notarangelo LD, O'Shea JJ, Candotti F. Genes Immun; 2001 Dec 17; 2(8):422-32. PubMed ID: 11781709 [Abstract] [Full Text] [Related]
15. Prenatal diagnosis of JAK3 deficient SCID. Schumacher RF, Mella P, Lalatta F, Fiorini M, Giliani S, Villa A, Candotti F, Notarangelo LD. Prenat Diagn; 1999 Jul 17; 19(7):653-6. PubMed ID: 10419614 [Abstract] [Full Text] [Related]
16. Characterization of the human CSK locus. Bräuninger A, Karn T, Strebhardt K, Rübsamen-Waigmann H. Oncogene; 1993 May 17; 8(5):1365-9. PubMed ID: 7683131 [Abstract] [Full Text] [Related]
17. The genomic locus of the human hemopoietic-specific cell protein tyrosine kinase (PTK)-encoding gene (HCK) confirms conservation of exon-intron structure among human PTKs of the src family. Hradetzky D, Strebhardt K, Rübsamen-Waigmann H. Gene; 1992 Apr 15; 113(2):275-80. PubMed ID: 1572549 [Abstract] [Full Text] [Related]
18. JAK3: expression and mapping to chromosome 19p12-13.1. Safford MG, Levenstein M, Tsifrina E, Amin S, Hawkins AL, Griffin CA, Civin CI, Small D. Exp Hematol; 1997 May 15; 25(5):374-86. PubMed ID: 9168059 [Abstract] [Full Text] [Related]
19. T cells from Jak3-deficient mice have intact TCR signaling, but increased apoptosis. Thomis DC, Lee W, Berg LJ. J Immunol; 1997 Nov 15; 159(10):4708-19. PubMed ID: 9366394 [Abstract] [Full Text] [Related]
20. Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency. 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. Br J Haematol; 2001 Mar 15; 112(3):671-6. PubMed ID: 11260071 [Abstract] [Full Text] [Related] Page: [Next] [New Search]