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Journal Abstract Search

117 related items for PubMed ID: 21491619

  • 1. Novel human pathological mutations. Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.
    Saxena R, Verma IC.
    Hum Genet; 2010 Apr; 127(4):488. PubMed ID: 21491619
    [No Abstract] [Full Text] [Related]

  • 2. Novel human pathological mutations. Gene symbol: TYR. Disease: albinism, oculocutaneous 1.
    Saxena R, Verma IC.
    Hum Genet; 2010 Apr; 127(4):488. PubMed ID: 21491618
    [No Abstract] [Full Text] [Related]

  • 3. Novel human pathological mutations. Gene symbol: TYR. Disease: albinism, oculocutaneous 1.
    Ray K, Chaki M, Sengupta M.
    Hum Genet; 2007 Dec; 122(5):555. PubMed ID: 18383608
    [No Abstract] [Full Text] [Related]

  • 4. Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.
    Ray K, Chaki M, Mukhopadhyay A.
    Hum Genet; 2005 May; 116(6):544. PubMed ID: 15991333
    [No Abstract] [Full Text] [Related]

  • 5. Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.
    Ray K, Chaki M, Mukhopadhyay A.
    Hum Genet; 2005 Jul; 117(2-3):299. PubMed ID: 16156027
    [No Abstract] [Full Text] [Related]

  • 6. Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.
    Patrosso MC, Lando G, Penco S.
    Hum Genet; 2008 Oct; 124(3):294. PubMed ID: 18846608
    [No 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; 13(2):134-9. PubMed ID: 8953413
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  • 11. Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.
    Ray K, Chaki M, Mukhopadhyay A.
    Hum Genet; 2005 May; 116(6):544. PubMed ID: 15991332
    [No Abstract] [Full Text] [Related]

  • 12. Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
    Spritz RA, Oh J, Fukai K, Holmes SA, Ho L, Chitayat D, France TD, Musarella MA, Orlow SJ, Schnur RE, Weleber RG, Levin AV.
    Hum Mutat; 1997 May; 10(2):171-4. PubMed ID: 9259202
    [No Abstract] [Full Text] [Related]

  • 13. 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 May; 21():730-5. PubMed ID: 26167114
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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]

  • 16. Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism.
    Oetting WS, Handoko HY, Mentink MM, Paller AS, White JG, King RA.
    J Invest Dermatol; 1991 Jul; 97(1):15-9. PubMed ID: 1676041
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  • 17. 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 Jul; 17(1):123-6. PubMed ID: 8051921
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  • 19. 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; 23(6):630-1. PubMed ID: 15146472
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