c-kit Activating Mutations and Mast Cell Proliferation in Human Leukemia
نویسندگان
چکیده
1. Derry JMJ, Ochs HD, Francke U: Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 78:635, 1994 2. Schwarz K, Nonoyama S, Peitsch MC, de Saint Basile G, Espanol T, Fasth A, Fischer A, Freitag K, Friedrich W, Fugmann S, Hossle H-P, Jones A, Kinnon C, Meindl A, Notarangelo LD, Wechsler A, Weiss M, Ochs HD: WASPbase: A database of WASand XLT-causing mutations. Immunol Today 17:496, 1996 3. Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso MC, Ramenghi U, Sacco MG, Ugazio A, Vezzoni P: X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 9:414, 1995 4. Ariga T, Yamada M, Sakiyama Y: Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members’ carrier status using three different methods. Pediatr Res 41:535, 1997 5. Ariga T, Yamada M, Ito S, Iwamura M, Iseki M, Sakiyama Y: Characterization of a deletion mutation involving exon 3-7 of the WASP gene detected in a patient with Wiskott-Aldrich syndrome. Hum Mutat 10:310, 1997 6. Stewart DM, Treiber-Held S, Kurman CC, Facchetti F, Notarangelo LD, Nelson DL: Studies of the expression of the Wiskott-Aldrich syndrome protein. J Clin Invest 97:2627, 1996 7. Hirschhorn R, Yang DR, Puck JM, Huie ML, Jiang C-K, Kurlandsky LE: Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat Genet 13:290, 1996 8. Stephan V, Wahn V, le Deist F, Dirksen U, Broker B, MullerFleckenstein I, Horneff G, Schroten H, Fischer A, de Saint Basile G: Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N Engl J Med 335:1563, 1996 9. Wengler G, Gorlin JB, Williamson JM, Rosen FS, Bing DH: Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome. Blood 85:2471, 1995
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