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颗粒状角膜营养不良1例 被引量:1

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作者 闫海艳
出处 《眼科新进展》 CAS 2006年第10期764-764,共1页 Recent Advances in Ophthalmology
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  • 1陈利丽,俞萍,顾扬顺,杨月红,阎小毅,葛振,吕娜,郭磊.BIGH3基因的Arg555Trp突变引起颗粒状角膜营养不良[J].眼科研究,2005,23(1):60-62. 被引量:3
  • 2陈家祺.角膜变性与角膜营养不良[A].严密主编.眼科学:第4版[C].北京: 人民卫生出版社,1997.81-82.
  • 3Okada M,Yamamoto S,Watanabe H,et al.Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene.Am J Ophthalmol,1998,126:169-176
  • 4Ellies P,Renard G,Valleix S,et al.Clinical outcome of eight BIGH3-linded corneal dystrophies.Ophthalmology,2002,109:793-797
  • 5Biswell R.Cornea.In:Vaughan D,Asbury T,Riordan-Eva P,eds.General ophthalmoloty.15th ed.Stamford:Appleton & Lange,1999,119-141
  • 6Miller SA,Dykes DD,Polesky HF.A simple salting out procedure for extracting DNA from human nucleated cells.Nucleic Acids Res,1988,16:1215
  • 7Mashima Y,Nakamura Y,Noda K,et al.A Novel Mutation at Codon 124 (R124L) in the BIGH3 Gene Is Associated With a Superficial Variant of Granular Corneal Dystrophy.Arch Ophthalmol,1999,117:90-93
  • 8Munier FL,Korvatska E,Djemai A,et al.Kerato-epithelin mutations in four 5q31 -linded corneal dystrophies.Nature genetics,1997,15:247-251
  • 9Endo S,Ha N T,Fujiki K,et al.Leu518Pro Mutation of the βig-h3 Gene Causes Lattice Corneal Dystrophy Type I.American Journal of Ophthalmoloty,1999,128:104-106
  • 10Klintworth GK,Bao W,Afshari NA,Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal in an extensively studied family.Invest Ophthalmol Vis Sci,2004,45:1382-1388

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