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中国人原发性先天性青光眼患者CYP1B1基因突变分析 被引量:1

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出处 《眼科研究》 CSCD 北大核心 2007年第10期732-732,共1页 Chinese Ophthalmic Research
基金 广州市卫生局基金资助(2004062)
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参考文献2

  • 1Sarfarazi M, Stoilov I, Schenkman JB. Genetics and biochemistry of primary congenital glaucoma[ J ]. Ophthalmol Clin North Am,2003,16:543 - 554.
  • 2Mashima Y, Suzuki Y, Sergeev Y, et al. Novel cytochrome P4501Bl (CYPlBl) gene mutations in Japanese patients with primary congenital glaucoma[ J]. Invest Ophthalmol Vis Sci ,2001,42: 2211 - 2216.

同被引文献32

  • 1Ho CL, Walton DS. Primary congenital glaucoma: 2004 update. J Pediatr Ophthalmol Strabismus, 2004, 41: 271-288.
  • 2Vasiliou V, Gonzalez FJ. Role of CYP1B1 in glaucoma. Annu Rev Pharmacol Toxicol, 2008, 48 : 333-358.
  • 3Franqois J. Congenital glaucoma and its inheritance. Ophthalmologica, 1980, 181: 61-73.
  • 4Sarfarazi M, Stoilov I, Schenkman JB. Genetics and biochemistry of primary congenital glaucoma. Ophthalmol Clin North Am, 2003, 16: 543-554.
  • 5Geneik A. Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primary congenital glaucoma in gypsies with autosomal-recessive inheritance and complete penetrance. Dev Ophthalmol, 1989, 16: 76-115.
  • 6Dandona L, Williams JD, Williams BC, et al. Population-based assessment of childhood blindness in southern India. Arch Ophthalmol, 1998, 116: 545-546.
  • 7Lee JH, Ki CS, Kim HJ, et al. Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucoma. Mol Vis, 2011, 17: 3583- 3590.
  • 8Stoilov I, Akarsu AN, Alozie I, et al. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P450 1B1. Am J Hum Genet, 1998, 62: 573-584.
  • 9Tang YM, Wo YY, Stewart J, et al. Isolation and characterization of the human cytochrome P450 CYPIB1 gene. J Biol Chem, 1996, 271 : 28324-28330.
  • 10Sarfarazi M, Akarsu AN, Hossain A, et al. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics, 1995, 30 : 171-177.

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