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与《产前基因诊断白化病携带者一例》作者商榷

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出处 《中华围产医学杂志》 CAS 2006年第4期286-287,共2页 Chinese Journal of Perinatal Medicine
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参考文献7

  • 1Gibel BL,Musarella MA,Spritz RA.A nonsensemutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type 1A)oculocutaneous albinism.J Med Genet,1991,28:464-467.
  • 2李洪义,吴维青,郑辉.眼皮肤白化病常见亚型的基因与基因突变[J].中国优生与遗传杂志,2004,12(1):118-121. 被引量:22
  • 3Tripathi RK,Strunk KM,Giebel LB,et al.Tyrosinase gene mutations in type I (Tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.Am J Med Genet,1992,43:865-871.
  • 4Gershoni-Baruch R,Rosemann A,Droetto S,et al.Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.Am J Hum Genet,1994,54:586-594.
  • 5Park ST,Park SK,Lee H,et al.DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1).J Hum Genet,1997,42:499-505.
  • 6Maki G,Kazuko C,Sato M,et al.Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.J Dermatol Sci,2004,35:215-220.
  • 7Tsail CH,Tsail FJ,Wu JY,et al.Insertion/deletion mutations of Type I oculocutaneous albinism in Chinese patients from Taiwan.Hum Mutat,Mutation in Brief # 275 (1999) Online.

二级参考文献27

  • 1[1]Oetting WS, King RA.Molecular Basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism[J]. Hum Mutat.1999,13(2):99-155.
  • 2[2]The International Albinism Center Albinism Database Web site: http://www.cbc.umn.edu.
  • 3[3]Newton JM, Cohen-Barakq O, Hagiwara N, et al. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4[J]. Am J Hum Genet. 2001 Nov,69(5):981-8. Epub 2001 Sep 26.
  • 4[4]Summers CG, Oetting WS, King RA. Diagnosis of oculocutaneous albinism with molecular analysis[J]. Am J Ophthalmol,1996,121(6):724-6.
  • 5[5]Gibel LB, Musarella MA, Spritz RA. A nonsensemutation in thetyrosimase gene of Afghan patients with tyrosinase negative (type 1A) oculocutaneous albinism[J]. J Med Genet,1991 Jul,28(7):464-7.
  • 6[6]Hearing VJ and Jimenez M. Mammalian tyrosinase-the critical regulatory control point in melanocyte pigmentation[J]. Int J Biochem,1987,19(12):1141-7.
  • 7[7]Sturm RA, Teasdale RD, Box NF. Identification of new genes related to the myogenic differentiation arrest of human rhabdomysarcoma cells[J]. Gene, 2001 Aug 22,74(1-2):139-49.
  • 8[8]Ponnzahagan S, Hou L, Kwon BS. Structural organization of the human tyrosinase gene and sequence analysis and characterization of its promoter region[J]. J Invest Dermatol,1994,May,102(5):744-8.
  • 9[9]Giebel LB, Strunk KM, Spritz RA. Organization and nucleotide sequences of the huamn tyrosinase gene and a truncated tyro sinase-related segment[J]. Genomics,1991 Mar,9(3):435-45.
  • 10[10]Spritz RA, Oh J, Fukai K, et al. Novel mutations of the tyrosinase(TYR) gene in type I oculocutaneous albinism (OCA1)[J]. Hum Mutat,1997,10(2):171-4.

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