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Volumn 13, Issue 2, 1996, Pages 134-139

R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism

Author keywords

Albinism; Ethnology; Mutation; Tyrosinase

Indexed keywords

DNA; MONOPHENOL MONOOXYGENASE;

EID: 0030297582     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0923-1811(96)00519-1     Document Type: Article
Times cited : (8)

References (13)
  • 1
    • 0028099849 scopus 로고
    • Molecular basis of oculocutaneous albinism
    • [1] Oetting WS, King RA. Molecular basis of oculocutaneous albinism. J Invest Dermatol 103: 131S-136S, 1994.
    • (1994) J Invest Dermatol , vol.103
    • Oetting, W.S.1    King, R.A.2
  • 2
    • 0024433692 scopus 로고
    • Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene
    • [2] Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun 164: 990-996, 1989.
    • (1989) Biochem Biophys Res Commun , vol.164 , pp. 990-996
    • Tomita, Y.1    Takeda, A.2    Okinaga, S.3    Tagami, H.4    Shibahara, S.5
  • 3
    • 0025008433 scopus 로고
    • Molecular basis of tyrosinase-negative oculocutaneous albinism
    • [3] Takeda A, Tomita Y, Matsunaga J, Tagami H, Shibahara S. Molecular basis of tyrosinase-negative oculocutaneous albinism. J Biol Chem 265: 17792-17797, 1990.
    • (1990) J Biol Chem , vol.265 , pp. 17792-17797
    • Takeda, A.1    Tomita, Y.2    Matsunaga, J.3    Tagami, H.4    Shibahara, S.5
  • 5
    • 0024400893 scopus 로고
    • Rapid, nonradioactive detection of mutations in the human genome by allele-specific amplification
    • [5] Okayama H, Curiel DT, Blantly ML, Hohnes MD, Crystal RG. Rapid, nonradioactive detection of mutations in the human genome by allele-specific amplification. J Lab Clin Med 114: 105-113, 1989.
    • (1989) J Lab Clin Med , vol.114 , pp. 105-113
    • Okayama, H.1    Curiel, D.T.2    Blantly, M.L.3    Hohnes, M.D.4    Crystal, R.G.5
  • 6
    • 0028825064 scopus 로고
    • Detection of point mutations in human tyrosinase gene by improved allele-specific amplification
    • [6] Matsunaga J, Tomita Y, Tagami H. Detection of point mutations in human tyrosinase gene by improved allele-specific amplification. Exp Dermatol 4: 377-381, 1995.
    • (1995) Exp Dermatol , vol.4 , pp. 377-381
    • Matsunaga, J.1    Tomita, Y.2    Tagami, H.3
  • 7
    • 0017879737 scopus 로고
    • A convenient method of establishing permanent lines of xeroderma pigmentosum cells
    • [7] Tohda H, Oikawa A, Katsuki T, Hinuma Y, Seiji M. A convenient method of establishing permanent lines of xeroderma pigmentosum cells. Cancer Res 38: 253-256, 1978.
    • (1978) Cancer Res , vol.38 , pp. 253-256
    • Tohda, H.1    Oikawa, A.2    Katsuki, T.3    Hinuma, Y.4    Seiji, M.5
  • 9
    • 0026070465 scopus 로고
    • Organization and nucleotide sequence of the human tyrosinase gene and a truncated tyrosinase-related segment
    • [9] Giebel LB, Strunk KM, Spritz RA. Organization and nucleotide sequence of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics 9: 435-445, 1991.
    • (1991) Genomics , vol.9 , pp. 435-445
    • Giebel, L.B.1    Strunk, K.M.2    Spritz, R.A.3
  • 10
    • 0027436609 scopus 로고
    • Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA)
    • [10] Tripathi RK, Bundey S, Musarella MA, Droetto S, Strunk KM, Holmes SA, Spritz RA. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). Am J Hum Genet 53: 1173-1179, 1993.
    • (1993) Am J Hum Genet , vol.53 , pp. 1173-1179
    • Tripathi, R.K.1    Bundey, S.2    Musarella, M.A.3    Droetto, S.4    Strunk, K.M.5    Holmes, S.A.6    Spritz, R.A.7
  • 11
    • 0028331890 scopus 로고
    • Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel
    • [11] Gershoni-Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi RK, Spritz RA. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. Am J Hum Genet 54: 586-594, 1994.
    • (1994) Am J Hum Genet , vol.54 , pp. 586-594
    • Gershoni-Baruch, R.1    Rosenmann, A.2    Droetto, S.3    Holmes, S.4    Tripathi, R.K.5    Spritz, R.A.6
  • 12
    • 0012001014 scopus 로고
    • Molecular analysis of oculocutaneous albinism in Koreans
    • [12] Park KC, Lee YS, Kim KH. Molecular analysis of oculocutaneous albinism in Koreans. J Invest Dermatol 104: 626, 1995.
    • (1995) J Invest Dermatol , vol.104 , pp. 626
    • Park, K.C.1    Lee, Y.S.2    Kim, K.H.3
  • 13
    • 0028451590 scopus 로고
    • Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by electron microscopic DOPA reaction test of fetal skin
    • [13] Shimizu H, Ishiko A, Kikuchi A, Akiyama M, Suzumori K, Nishikawa T. Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by electron microscopic DOPA reaction test of fetal skin. Prenat Diagn 14: 443-450, 1994.
    • (1994) Prenat Diagn , vol.14 , pp. 443-450
    • Shimizu, H.1    Ishiko, A.2    Kikuchi, A.3    Akiyama, M.4    Suzumori, K.5    Nishikawa, T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.