Literature DB >> 10896446

Haplotye analysis of Jaanese families with a superficial variant of granular corneal dystrohy: evidence for multiple origins of R124L mutation of keratoepithelin.

E Korvatska, M Yamada, S Yamamoto, M Okada, F L Munier, D F Schorderet, Y Mashima.   

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Year:  2000        PMID： 10896446

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


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  2 in total

1.  TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.

Authors:  Ke Ma; Guo Liu; Yin Yang; Man Yu; Ruifang Sui; Wenhan Yu; Xiaoming Chen; Yinping Deng; Naihong Yan; Guiqun Cao; Xuyang Liu
Journal:  Mol Vis       Date:  2010-03-31       Impact factor: 2.367

2.  A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.

Authors:  Catherine E Wheeldon; Betina H de Karolyi; Dipika V Patel; Trevor Sherwin; Charles N J McGhee; Andrea L Vincent
Journal:  Mol Vis       Date:  2008-08-18       Impact factor: 2.367
  2 in total

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