A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA.
作者信息
Yamamoto S, Okada M, Tsujikawa M, Shimomura Y, Nishida K, Inoue Y, Watanabe H, Maeda N, Kurahashi H, Kinoshita S, Nakamura Y, Tano Y
出版信息
Am J Hum Genet. 1998 Mar;62(3):719-22. doi: 10.1086/301765.
Abstract
摘要
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A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA.III型A晶格状角膜营养不良中的角蛋白上皮素（βig-h3）突变。
Am J Hum Genet. 1998 Mar;62(3):719-22. doi: 10.1086/301765.
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[Kerato-epithelin mutation (R 555 Q) in a case of Reis-Bücklers corneal dystrophy].[一例Reis-Bücklers角膜营养不良患者的角蛋白上皮素突变（R555Q）]
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Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene.
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Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124 --> Cys mutation in the kerato-epithelin gene. sgupta@ogh.on.ca.加拿大一个家族中的1型晶格状角膜营养不良与角膜上皮素基因中的Arg124 --> Cys突变相关。sgupta@ogh.on.ca。
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