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273 related items for PubMed ID: 1970634

  • 1. A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.
    Giebel LB, Strunk KM, King RA, Hanifin JM, Spritz RA.
    Proc Natl Acad Sci U S A; 1990 May; 87(9):3255-8. PubMed ID: 1970634
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  • 2. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene.
    Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S.
    Biochem Biophys Res Commun; 1989 Nov 15; 164(3):990-6. PubMed ID: 2511845
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  • 3. A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.
    Giebel LB, Musarella MA, Spritz RA.
    J Med Genet; 1991 Jul 15; 28(7):464-7. PubMed ID: 1832718
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  • 9. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.
    Giebel LB, Tripathi RK, King RA, Spritz RA.
    J Clin Invest; 1991 Mar 15; 87(3):1119-22. PubMed ID: 1900309
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  • 10. Identification of the albino mutation of mouse tyrosinase by analysis of an in vitro revertant.
    Jackson IJ, Bennett DC.
    Proc Natl Acad Sci U S A; 1990 Sep 15; 87(18):7010-4. PubMed ID: 2119500
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  • 12. Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism.
    Castle D, Kromberg J, Kowalsky R, Moosa R, Gillman N, Zwane E, Fritz V.
    J Med Genet; 1988 Dec 15; 25(12):835-7. PubMed ID: 3148727
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  • 19. Molecular bases of tyrosinase-negative oculocutaneous albinism: a single base insertion or a missense point mutation in the tyrosinase gene.
    Tomita Y, Takeda A, Matsunaga J, Okinaga S, Shibahara S, Tagami H.
    Pigment Cell Res; 1992 Dec 15; Suppl 2():96-100. PubMed ID: 1409445
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  • 20. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.
    Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA.
    N Engl J Med; 1994 Feb 24; 330(8):529-34. PubMed ID: 8302318
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