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Volumn 41, Issue 3, 1996, Pages 299-305

Mutations of the Tyrosinase gene in three Korean patients with type I oculocutaneous albinism

Author keywords

Korean; mutations; oculocutaneous albinism; tyrosinase

Indexed keywords

MELANIN; MONOPHENOL MONOOXYGENASE;

EID: 0029855673     PISSN: 09168478     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01913172     Document Type: Article
Times cited : (12)

References (13)
  • 1
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    • Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment
    • Giebel LB, Strunk KM, Spritz RA (1991): Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics 9: 1-11
    • (1991) Genomics , vol.9 , pp. 1-11
    • Giebel, L.B.1    Strunk, K.M.2    Spritz, R.A.3
  • 3
    • 0019945365 scopus 로고
    • Mammalian tyrosinase catalyzes three reactions in the biosynthesis of melanin
    • Korner AM, Pawelek JM (1982): Mammalian tyrosinase catalyzes three reactions in the biosynthesis of melanin. Science 217: 1163-1165
    • (1982) Science , vol.217 , pp. 1163-1165
    • Korner, A.M.1    Pawelek, J.M.2
  • 4
    • 0028525572 scopus 로고
    • Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1)
    • Getting WS, King RA ( 1994): Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1). Pigm Cell Res 7: 285-290
    • (1994) Pigm Cell Res , vol.7 , pp. 285-290
    • Getting, W.S.1    King, R.A.2
  • 5
    • 0024595101 scopus 로고
    • Detection of polymorphism of human DNA by gel electrophoresis as single-strand conformation polymorphism
    • Orita M, Iwahana H, Kanazawa H, Hayashi K, Seika T (1989): Detection of polymorphism of human DNA by gel electrophoresis as single-strand conformation polymorphism. Proc Natl Acad Sci USA 86: 2766-2770
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Seika, T.5
  • 7
    • 0014010123 scopus 로고
    • Tyrosine hydroxylase activity of mammalian tyrosinase
    • Pomeranz SH (1966): Tyrosine hydroxylase activity of mammalian tyrosinase. J Biol Chem 241: 161-168
    • (1966) J Biol Chem , vol.241 , pp. 161-168
    • Pomeranz, S.H.1
  • 10
    • 0028022094 scopus 로고
    • Molecular genetics of oculocutaneous albinism
    • Spritz RA (1994): Molecular genetics of oculocutaneous albinism. Hum Mol Genet 3: 1469-1475
    • (1994) Hum Mol Genet , vol.3 , pp. 1469-1475
    • Spritz, R.A.1
  • 11


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.