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173 related items for PubMed ID: 7887411

  • 1. An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids.
    Stevens G, van Beukering J, Jenkins T, Ramsay M.
    Am J Hum Genet; 1995 Mar; 56(3):586-91. PubMed ID: 7887411
    [Abstract] [Full Text] [Related]

  • 2. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.
    Durham-Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, Aquaron R, del Marmol V, Brilliant MH.
    Nat Genet; 1994 Jun; 7(2):176-9. PubMed ID: 7920637
    [Abstract] [Full Text] [Related]

  • 3. Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).
    Lee ST, Nicholls RD, Schnur RE, Guida LC, Lu-Kuo J, Spinner NB, Zackai EH, Spritz RA.
    Hum Mol Genet; 1994 Nov; 3(11):2047-51. PubMed ID: 7874125
    [Abstract] [Full Text] [Related]

  • 4. Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation.
    Stevens G, Ramsay M, Jenkins T.
    Hum Genet; 1997 Apr; 99(4):523-7. PubMed ID: 9099845
    [Abstract] [Full Text] [Related]

  • 5. In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.
    Manga P, Kromberg J, Turner A, Jenkins T, Ramsay M.
    Am J Hum Genet; 2001 Mar; 68(3):782-7. PubMed ID: 11179026
    [Abstract] [Full Text] [Related]

  • 6. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.
    Ramsay M, Colman MA, Stevens G, Zwane E, Kromberg J, Farrall M, Jenkins T.
    Am J Hum Genet; 1992 Oct; 51(4):879-84. PubMed ID: 1415228
    [Abstract] [Full Text] [Related]

  • 7. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.
    Kerr R, Stevens G, Manga P, Salm S, John P, Haw T, Ramsay M.
    Hum Mutat; 2000 Oct; 15(2):166-72. PubMed ID: 10649493
    [Abstract] [Full Text] [Related]

  • 8. The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.
    Kedda MA, Stevens G, Manga P, Viljoen C, Jenkins T, Ramsay M.
    Am J Hum Genet; 1994 Jun; 54(6):1078-84. PubMed ID: 8198130
    [Abstract] [Full Text] [Related]

  • 9. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
    Wang Y, Wang Z, Chen M, Fan N, Yang J, Liu L, Wang Y, Liu X.
    PLoS One; 2015 Jun; 10(4):e0125651. PubMed ID: 25919014
    [Abstract] [Full Text] [Related]

  • 10. Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene.
    Puri N, Durbam-Pierre D, Aquaron R, Lund PM, King RA, Brilliant MH.
    Hum Genet; 1997 Oct; 100(5-6):651-6. PubMed ID: 9341887
    [Abstract] [Full Text] [Related]

  • 11. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.
    Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M.
    Am J Hum Genet; 1997 Nov; 61(5):1095-101. PubMed ID: 9345097
    [Abstract] [Full Text] [Related]

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  • 13. Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene.
    Schnur RE, Sellinger BT, Holmes SA, Wick PA, Tatsumura YO, Spritz RA.
    J Invest Dermatol; 1996 May; 106(5):1137-40. PubMed ID: 8618053
    [Abstract] [Full Text] [Related]

  • 14. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).
    Spritz RA, Fukai K, Holmes SA, Luande J.
    Am J Hum Genet; 1995 Jun; 56(6):1320-3. PubMed ID: 7762554
    [Abstract] [Full Text] [Related]

  • 15. Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene.
    Sengupta M, Mondal M, Jaiswal P, Sinha S, Chaki M, Samanta S, Ray K.
    Br J Dermatol; 2010 Sep; 163(3):487-94. PubMed ID: 20426782
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.
    Aquaron R, Soufir N, Bergé-Lefranc JL, Badens C, Austerlitz F, Grandchamp B.
    J Hum Genet; 2007 Feb 24; 52(9):771-780. PubMed ID: 17767372
    [Abstract] [Full Text] [Related]

  • 18. The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.
    Oetting WS, Pietsch J, Brott MJ, Savage S, Fryer JP, Summers CG, King RA.
    Am J Med Genet A; 2009 Mar 24; 149A(3):466-9. PubMed ID: 19208379
    [Abstract] [Full Text] [Related]

  • 19. Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.
    Spritz RA, Strunk KM, Hsieh CL, Sekhon GS, Francke U.
    Am J Hum Genet; 1991 Feb 24; 48(2):318-24. PubMed ID: 1899321
    [Abstract] [Full Text] [Related]

  • 20. Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
    Khordadpoor-Deilamani F, Akbari MT, Karimipoor M, Javadi G.
    Mol Vis; 2015 Feb 24; 21():730-5. PubMed ID: 26167114
    [Abstract] [Full Text] [Related]

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