De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.
作者信息
Hilton E N, Black G C M, Manson F D C, Schorderet D F, Munier F L
出版信息
Br J Ophthalmol. 2007 Aug;91(8):1083-4. doi: 10.1136/bjo.2006.103283.
Abstract
摘要
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本文引用的文献
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A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.
Hum Mutat. 2006 Jun;27(6):553-7. doi: 10.1002/humu.20331.
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