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The genetic defect in ataxia-telangiectasia.
Lavin MF, Shiloh Y. Lavin MF, et al. Among authors: shiloh y. Annu Rev Immunol. 1997;15:177-202. doi: 10.1146/annurev.immunol.15.1.177. Annu Rev Immunol. 1997. PMID: 9143686 Review.
A high-density microsatellite map of the ataxia-telangiectasia locus.
Vanagaite L, James MR, Rotman G, Savitsky K, Bar-Shira A, Gilad S, Ziv Y, Uchenik V, Sartiel A, Collins FS, Sheffield VC, Richard CW 3rd, Weissenbach J, Shiloh Y. Vanagaite L, et al. Among authors: shiloh y. Hum Genet. 1995 Apr;95(4):451-4. doi: 10.1007/BF00208975. Hum Genet. 1995. PMID: 7705845
Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations.
Fukao T, Song XQ, Yoshida T, Tashita H, Kaneko H, Teramoto T, Inoue R, Katamura K, Mayumi M, Hiratani M, Taniguchi N, Arai J, Wakiguchi H, Bar-Shira A, Shiloh Y, Kondo N. Fukao T, et al. Among authors: shiloh y. Hum Mutat. 1998;12(5):338-43. doi: 10.1002/(SICI)1098-1004(1998)12:5<338::AID-HUMU7>3.0.CO;2-9. Hum Mutat. 1998. PMID: 9792410
Defective potassium currents in ataxia telangiectasia fibroblasts.
Rhodes N, D'Souza T, Foster CD, Ziv Y, Kirsch DG, Shiloh Y, Kastan MB, Reinhart PH, Gilmer TM. Rhodes N, et al. Among authors: shiloh y. Genes Dev. 1998 Dec 1;12(23):3686-92. doi: 10.1101/gad.12.23.3686. Genes Dev. 1998. PMID: 9851975 Free PMC article.
A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NG, Taylor AM, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y. Savitsky K, et al. Among authors: shiloh y. Science. 1995 Jun 23;268(5218):1749-53. doi: 10.1126/science.7792600. Science. 1995. PMID: 7792600
231 results