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Journal Abstract Search

290 related items for PubMed ID: 18383608

  • 1. 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
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  • 5. Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II.
    Renugadevi K, Sil AK, Perumalsamy V, Sundaresan P.
    Hum Genet; 2009 Apr; 125(3):340. PubMed ID: 19309806
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  • 6. 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
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  • 13. 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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  • 16. 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; 8(1):19-29. PubMed ID: 1943686
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  • 19. [Oculocutaneous albinism 1B associated with a new mutation in the TYR gene].
    Vidal-Ríos P, Fernández-Seara MJ, Cortés E, Hurtado L, Couce ML.
    An Pediatr (Barc); 2013 May; 78(5):339-40. PubMed ID: 23085315
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  • 20. 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; 70(Pt 5):623-30. PubMed ID: 16907708
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