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Journal Abstract Search

129 related items for PubMed ID: 8051921

  • 1. Single-strand conformation polymorphism analysis of point mutation in a tyrosinase-negative oculocutaneous albinism.
    Park KC, Kim KH, Lee YS, Kwon BS.
    J Inherit Metab Dis; 1994; 17(1):123-6. PubMed ID: 8051921
    [No Abstract] [Full Text] [Related]

  • 2. 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; 28(2):102-5. PubMed ID: 11858948
    [Abstract] [Full Text] [Related]

  • 3. Sequence analysis of the human tyrosinase promoter from a patient with tyrosinase-negative oculocutaneous albinism.
    Matsunaga J, Dakeishi M, Miyamura Y, Tomita Y.
    Pigment Cell Res; 1997 Feb; 10(1-2):64-7. PubMed ID: 9170165
    [Abstract] [Full Text] [Related]

  • 4. A dinucleotide deletion (-delta GA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual.
    Oetting WS, Fryer JP, King RA.
    Hum Mol Genet; 1993 Jul; 2(7):1047-8. PubMed ID: 8364542
    [No Abstract] [Full Text] [Related]

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

  • 6. Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism.
    Park SK, Lee KH, Park KC, Lee JS, Spritz RA, Lee ST.
    Mol Cells; 1997 Apr 30; 7(2):187-91. PubMed ID: 9163730
    [Abstract] [Full Text] [Related]

  • 7. R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism.
    Matsunaga J, Dakeishi M, Shimizu H, Tomita Y.
    J Dermatol Sci; 1996 Nov 30; 13(2):134-9. PubMed ID: 8953413
    [Abstract] [Full Text] [Related]

  • 8. Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1).
    Oetting WS, King RA.
    Pigment Cell Res; 1994 Oct 30; 7(5):285-90. PubMed ID: 7886000
    [Abstract] [Full Text] [Related]

  • 9. Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
    Opitz S, Käsmann-Kellner B, Kaufmann M, Schwinger E, Zühlke C.
    Hum Mutat; 2004 Jun 30; 23(6):630-1. PubMed ID: 15146472
    [Abstract] [Full Text] [Related]

  • 10. 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 30; 48(2):318-24. PubMed ID: 1899321
    [Abstract] [Full Text] [Related]

  • 11. 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 30; 28(7):464-7. PubMed ID: 1832718
    [Abstract] [Full Text] [Related]

  • 12. Technical advances in prenatal diagnosis of tyrosinase-negative oculocutaneous albinism.
    Shimizu H.
    Acta Derm Venereol; 1997 Jan 30; 77(1):10-3. PubMed ID: 9059668
    [Abstract] [Full Text] [Related]

  • 13. 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 Jan 30; Suppl 2():96-100. PubMed ID: 1409445
    [Abstract] [Full Text] [Related]

  • 14. Molecular basis of type IA (tyrosinase negative) oculocutaneous albinism.
    King RA, Oetting WS.
    Pigment Cell Res; 1992 Jan 30; Suppl 2():249-53. PubMed ID: 1409426
    [Abstract] [Full Text] [Related]

  • 15. 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 Jan 30; 21():730-5. PubMed ID: 26167114
    [Abstract] [Full Text] [Related]

  • 16. 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 30; 41(3):299-305. PubMed ID: 8996965
    [Abstract] [Full Text] [Related]

  • 17. 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 30; 149A(3):466-9. PubMed ID: 19208379
    [Abstract] [Full Text] [Related]

  • 18. Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients.
    Chaki M, Sengupta M, Mondal M, Bhattacharya A, Mallick S, Bhadra R, Indian Genome Variation Consortium, Ray K.
    J Invest Dermatol; 2011 Jan 30; 131(1):260-2. PubMed ID: 20861851
    [No Abstract] [Full Text] [Related]

  • 19. [Human oculocutaneous albinism. From clinical observation to molecular biology].
    Aquaron R.
    Bull Soc Pathol Exot; 1993 Jan 30; 86(5):313-26. PubMed ID: 8124097
    [Abstract] [Full Text] [Related]

  • 20. Cloning and sequence analysis of the tyrosinase gene from a patient with tyrosinase-positive oculocutaneous albinism.
    Matsunaga J, Takeda A, Tomita Y, Hara M, Shibahara S, Tagami H.
    J Dermatol Sci; 1992 May 30; 3(3):181-5. PubMed ID: 1498098
    [Abstract] [Full Text] [Related]

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