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Journal Abstract Search

191 related items for PubMed ID: 8198130

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  • 2. 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
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  • 3. In quest of the tyrosinase-positive oculocutaneous albinism gene.
    Jenkins T, Heim RA, Dunn DS, Zwane E, Colman MA, Ramsay M, Kromberg JG.
    Ophthalmic Paediatr Genet; 1990 Dec; 11(4):251-4. PubMed ID: 1982896
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  • 6. 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 Dec; 15(2):166-72. PubMed ID: 10649493
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  • 8. 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
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  • 9. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.
    Rinchik EM, Bultman SJ, Horsthemke B, Lee ST, Strunk KM, Spritz RA, Avidano KM, Jong MT, Nicholls RD.
    Nature; 1993 Jan 07; 361(6407):72-6. PubMed ID: 8421497
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  • 11. TYPES OF ALBINISM IN THE BLACK SOUTHERN AFRICA POPULATION.
    Kromberg JG, Bothwell J, Kidson SH, Manga P, Kerr R, Jenkins T.
    East Afr Med J; 2012 Jan 07; 89(1):20-7. PubMed ID: 26845807
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  • 12. 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 07; 99(4):523-7. PubMed ID: 9099845
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  • 13. 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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  • 14. SLC45A2 variations in Indian oculocutaneous albinism patients.
    Sengupta M, Chaki M, Arti N, Ray K.
    Mol Vis; 2007 Aug 10; 13():1406-11. PubMed ID: 17768386
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  • 15. Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.
    Loftus SK, Gillis MF, Lundh L, Baxter LL, Wedel JC, Watkins-Chow DE, Donovan FX, NISC Comparative Sequencing ProgramNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Sergeev YV, Oetting WS, Pavan WJ, Adams DR.
    Am J Hum Genet; 2023 Jul 06; 110(7):1123-1137. PubMed ID: 37327787
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  • 16. Might the refractive state in oculocutaneous albino patients be a clue for distinguishing between tyrosinase-positive and tyrosinase-negative forms of oculocutaneous albinism?
    Käsmann B, Ruprecht KW.
    Ger J Ophthalmol; 1996 Nov 06; 5(6):422-7. PubMed ID: 9479530
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  • 17. Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.
    Oetting WS, King RA.
    Hum Mutat; 1993 Nov 06; 2(1):1-6. PubMed ID: 8477259
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  • 18. 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 06; 3(11):2047-51. PubMed ID: 7874125
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  • 19. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.
    Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH.
    Am J Hum Genet; 2001 Nov 06; 69(5):981-8. PubMed ID: 11574907
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  • 20. Albinism and developmental delay: the need to test for 15q11-q13 deletion.
    Saadeh R, Lisi EC, Batista DA, McIntosh I, Hoover-Fong JE.
    Pediatr Neurol; 2007 Oct 06; 37(4):299-302. PubMed ID: 17903679
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