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Journal Abstract Search

190 related items for PubMed ID: 12469324

  • 1. A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.
    Yi Z, Garrison N, Cohen-Barak O, Karafet TM, King RA, Erickson RP, Hammer MF, Brilliant MH.
    Am J Hum Genet; 2003 Jan; 72(1):62-72. PubMed ID: 12469324
    [Abstract] [Full Text] [Related]

  • 2. 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 Jan; 15(2):166-72. PubMed ID: 10649493
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  • 3. Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe.
    Kagore F, Lund PM.
    J Med Genet; 1995 Nov; 32(11):859-61. PubMed ID: 8592327
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  • 5. Oculocutaneous albinism in an isolated Tonga community in Zimbabwe.
    Lund PM, Puri N, Durham-Pierre D, King RA, Brilliant MH.
    J Med Genet; 1997 Sep; 34(9):733-5. PubMed ID: 9321758
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  • 6. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).
    Spritz RA, Fukai K, Holmes SA, Luande J.
    Am J Hum Genet; 1995 Jun; 56(6):1320-3. PubMed ID: 7762554
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  • 8. SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
    Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S, Patrosso MC.
    Gene; 2014 Jan 01; 533(1):398-402. PubMed ID: 24096233
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  • 10. Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.
    Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B.
    Hum Mutat; 2004 Feb 01; 23(2):106-110. PubMed ID: 14722913
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  • 12. Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.
    Rimoldi V, Straniero L, Asselta R, Mauri L, Manfredini E, Penco S, Gesu GP, Del Longo A, Piozzi E, Soldà G, Primignani P.
    Gene; 2014 Mar 01; 537(1):79-84. PubMed ID: 24361966
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  • 13. Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report.
    Wang H, Wan Y, Yang Y, Li H, Mao L, Gao S, Xu J, Wang J.
    BMC Med Genet; 2019 Jul 25; 20(1):130. PubMed ID: 31345173
    [Abstract] [Full Text] [Related]

  • 14. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.
    Durham-Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, Aquaron R, del Marmol V, Brilliant MH.
    Nat Genet; 1994 Jun 25; 7(2):176-9. PubMed ID: 7920637
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  • 15. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
    Hutton SM, Spritz RA.
    J Invest Dermatol; 2008 Oct 25; 128(10):2442-50. PubMed ID: 18463683
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  • 18. A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice.
    Shoji H, Kiniwa Y, Okuyama R, Yang M, Higuchi K, Mori M.
    Exp Anim; 2015 Oct 25; 64(2):171-9. PubMed ID: 25736709
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  • 19. Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.
    Ullah MI.
    Genes (Basel); 2022 Jun 16; 13(6):. PubMed ID: 35741834
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  • 20. Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans.
    Durham-Pierre D, King RA, Naber JM, Laken S, Brilliant MH.
    Hum Mutat; 1996 Jun 16; 7(4):370-3. PubMed ID: 8723691
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