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Volumn 7, Issue 4, 1996, Pages 370-373

Estimation of carrier frequency of a 2,7 kb deletion allele of the p gene associated with OCA2 in African-Americans

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 0030011888     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1996)7:4<370::aid-humu15>3.0.co;2-%23     Document Type: Article
Times cited : (23)

References (17)
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  • 5
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    • Diverse mutations in the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)
    • Lee S-T, Nicholls RD, Schnur RE, Guida LC, Lu-Kuo J, Spinner NB, Zackai EH et al. (1994) Diverse mutations in the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum Mol Genet 3:2047-2051.
    • (1994) Hum Mol Genet , vol.3 , pp. 2047-2051
    • Lee, S.-T.1    Nicholls, R.D.2    Schnur, R.E.3    Guida, L.C.4    Lu-Kuo, J.5    Spinner, N.B.6    Zackai, E.H.7
  • 6
    • 0028942723 scopus 로고
    • Organization and sequence of the human P gene and identification of a new family of transport proteins
    • Lee S-T, Nicholls RD, Jong MTC, Spritz RA (1995) Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 26:354-363.
    • (1995) Genomics , vol.26 , pp. 354-363
    • Lee, S.-T.1    Nicholls, R.D.2    Jong, M.T.C.3    Spritz, R.A.4
  • 7
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    • Molecular basis of type I (tyrosinaserelated) oculocutaneous albinism: Mutations and polymorphisms of the human tyrosinase gene
    • review
    • Oetting WS, King RA (1993) Molecular basis of type I (tyrosinaserelated) oculocutaneous albinism: Mutations and polymorphisms of the human tyrosinase gene. Hum Mut 2:1-6 (review).
    • (1993) Hum Mut , vol.2 , pp. 1-6
    • Oetting, W.S.1    King, R.A.2
  • 10
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    • Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene
    • Rosemblat S, Durham-Pierre D, Gardner JM, Nakatsu Y, Brilliant MH, Orlow SJ (1994) Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. Proc Natl Acad Sci USA 91: 12071-12075.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 12071-12075
    • Rosemblat, S.1    Durham-Pierre, D.2    Gardner, J.M.3    Nakatsu, Y.4    Brilliant, M.H.5    Orlow, S.J.6
  • 11
    • 0029004012 scopus 로고
    • Frequent intragenic deletion of the P gene in Tanzanian patients with Type II oculocutaneous albinism (OCA2)
    • Spritz RA, Fukai K, Holmes SA, Luande J (1995) Frequent intragenic deletion of the P gene in Tanzanian patients with Type II oculocutaneous albinism (OCA2). Am J Hum Genet 56: 1320-1323.
    • (1995) Am J Hum Genet , vol.56 , pp. 1320-1323
    • Spritz, R.A.1    Fukai, K.2    Holmes, S.A.3    Luande, J.4
  • 12
    • 0028945964 scopus 로고
    • An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism (OCA2) in southern African Negroids
    • Stevens G, van Beukering J, Jenkins T, Ramsay M (1995) An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism (OCA2) in southern African Negroids. Am J Hum Genet 56:586-591.
    • (1995) Am J Hum Genet , vol.56 , pp. 586-591
    • Stevens, G.1    Van Beukering, J.2    Jenkins, T.3    Ramsay, M.4
  • 14
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    • Autosomal recessive oculocutaneous albinism in man: Evidence for genetic heterogeneity
    • Witkop CJ Jr, Nance WE, Rawls RF, White JG (1970) Autosomal recessive oculocutaneous albinism in man: Evidence for genetic heterogeneity. Am J Hum Genet 22:55-74.
    • (1970) Am J Hum Genet , vol.22 , pp. 55-74
    • Witkop Jr., C.J.1    Nance, W.E.2    Rawls, R.F.3    White, J.G.4
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    • Witkop CJ Jr, Niswander JD, Bergsma DR, Workman PL, White JG (1972) Tyrosinase positive oculocutaneous albinism among the Zuni and the Brandywine triracial isolate: Biochemical and clinical characteristics and fertility. Am J Phys Anthropol 36: 397-405.
    • (1972) Am J Phys Anthropol , vol.36 , pp. 397-405
    • Witkop Jr., C.J.1    Niswander, J.D.2    Bergsma, D.R.3    Workman, P.L.4    White, J.G.5
  • 17
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    • Opthalmologic, biochemical, platelet and ultrastructural defects in the various types of oculocutaneous albinism
    • Witkop CJ Jr, Hill CW, Desnick S, Theis JK, Thorn HL, Jenkins M (1973) Opthalmologic, biochemical, platelet and ultrastructural defects in the various types of oculocutaneous albinism. J Invest Dermatol 60:443-456.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.