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Journal Abstract Search

343 related items for PubMed ID: 8124097

  • 1. [Human oculocutaneous albinism. From clinical observation to molecular biology].
    Aquaron R.
    Bull Soc Pathol Exot; 1993; 86(5):313-26. PubMed ID: 8124097
    [Abstract] [Full Text] [Related]

  • 2. Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
    Tripathi RK, Strunk KM, Giebel LB, Weleber RG, Spritz RA.
    Am J Med Genet; 1992 Jul 15; 43(5):865-71. PubMed ID: 1642278
    [Abstract] [Full Text] [Related]

  • 3. Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.
    Oetting WS, King RA.
    Hum Mutat; 1993 Jul 15; 2(1):1-6. PubMed ID: 8477259
    [Abstract] [Full Text] [Related]

  • 4. Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.
    King RA, Mentink MM, Oetting WS.
    Mol Biol Med; 1991 Feb 15; 8(1):19-29. PubMed ID: 1943686
    [Abstract] [Full Text] [Related]

  • 5. [Oculocutaneous albinism].
    Lacour JP, Ortonne JP.
    Ann Pediatr (Paris); 1992 Sep 15; 39(7):409-18. PubMed ID: 1416662
    [Abstract] [Full Text] [Related]

  • 6. Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
    Camand O, Marchant D, Boutboul S, Péquignot M, Odent S, Dollfus H, Sutherland J, Levin A, Menasche M, Marsac C, Dufier JL, Heon E, Abitbol M.
    Hum Mutat; 2001 Apr 15; 17(4):352. PubMed ID: 11295837
    [Abstract] [Full Text] [Related]

  • 7. Mutations of the tyrosinase gene in three Korean patients with type I oculocutaneous albinism.
    Park KC, Park SK, Lee YS, Youn SW, Park BS, Kim KH, Lee ST.
    Jpn J Hum Genet; 1996 Sep 15; 41(3):299-305. PubMed ID: 8996965
    [Abstract] [Full Text] [Related]

  • 8. 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 Sep 15; 21():730-5. PubMed ID: 26167114
    [Abstract] [Full Text] [Related]

  • 9. Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4.
    Costin GE, Valencia JC, Vieira WD, Lamoreux ML, Hearing VJ.
    J Cell Sci; 2003 Aug 01; 116(Pt 15):3203-12. PubMed ID: 12829739
    [Abstract] [Full Text] [Related]

  • 10. OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene.
    Chaki M, Sengupta M, Mukhopadhyay A, Subba Rao I, Majumder PP, Das M, Samanta S, Ray K.
    Ann Hum Genet; 2006 Sep 01; 70(Pt 5):623-30. PubMed ID: 16907708
    [Abstract] [Full Text] [Related]

  • 11. Oculocutaneous albinism type 1A: a case report.
    Karaman A.
    Dermatol Online J; 2008 Nov 15; 14(11):13. PubMed ID: 19094851
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online.
    Oetting WS, Fryer JP, King RA.
    Hum Mutat; 1998 Feb 24; 12(6):433-4. PubMed ID: 10671066
    [Abstract] [Full Text] [Related]

  • 14. A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).
    Nakamura E, Miyamura Y, Matsunaga J, Kano Y, Dakeishi-Hara M, Tanita M, Kono M, Tomita Y.
    J Dermatol Sci; 2002 Feb 24; 28(2):102-5. PubMed ID: 11858948
    [Abstract] [Full Text] [Related]

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  • 16. Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan.
    Tsai CH, Tsai FJ, Wu JY, Lin SP, Chang JG, Yang CF, Lee CC.
    Hum Mutat; 1999 Dec 24; 14(6):542. PubMed ID: 10571953
    [Abstract] [Full Text] [Related]

  • 17. The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism.
    Giebel LB, Spritz RA.
    Pigment Cell Res; 1992 Dec 24; Suppl 2():101-6. PubMed ID: 1409411
    [No Abstract] [Full Text] [Related]

  • 18.
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  • 19. Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.
    Chaki M, Mukhopadhyay A, Chatterjee S, Das M, Samanta S, Ray K.
    Mol Vis; 2005 Jul 19; 11():531-4. PubMed ID: 16056219
    [Abstract] [Full Text] [Related]

  • 20. [An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].
    Sanabria D, Groot H, Guzmán J, Lattig MC.
    Biomedica; 2012 Jun 19; 32(2):269-76. PubMed ID: 23242301
    [Abstract] [Full Text] [Related]

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