Literature DB >> 21191728

Case of lattice corneal dystrophy due to L527R mutation in the TGFBI gene with asymmetric corneal opacity in eye laterality.

Takako Ohnishi, Tohru Sakimoto, Mitsuru Sawa.   

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Year:  2010        PMID： 21191728     DOI： 10.1007/s10384-010-0882-1

Source DB:  PubMed          Journal:  Jpn J Ophthalmol        ISSN： 0021-5155            Impact factor:   2.447


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  5 in total

1.  Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TGFBI gene.

Authors:  Tomoyo Funayama; Yukihiko Mashima; Motoko Kawashima; Masakazu Yamada
Journal:  Jpn J Ophthalmol       Date:  2006 Jan-Feb       Impact factor: 2.447

2.  Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor.

Authors:  Hideki Fukuoka; Satoshi Kawasaki; Kenta Yamasaki; Akira Matsuda; Akiko Fukumoto; Akira Murakami; Shigeru Kinoshita
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-03-31       Impact factor: 4.799

3.  [Six cases of late-onset lattice corneal dystrophy associated with gene mutations induced by the transforming growth factor-beta].

Authors:  Motoko Kawashima; Masakazu Yamada; Tomoyo Funayama; Yukihiko Mashima
Journal:  Nippon Ganka Gakkai Zasshi       Date:  2005-02

4.  A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities.

Authors:  K Fujiki; Y Hotta; K Nakayasu; T Yokoyama; T Takano; T Yamaguchi; A Kanai
Journal:  Hum Genet       Date:  1998-09       Impact factor: 4.132

5.  Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene.

Authors:  Natalie A Afshari; Rosanna P Bahadur; David E Eifrig; Ida B Thogersen; Jan J Enghild; Gordon K Klintworth
Journal:  Mol Vis       Date:  2008-03-12       Impact factor: 2.367
  5 in total
  2 in total

1.  TGFBI gene mutations in a Korean population with corneal dystrophy.

Authors:  Kyong Jin Cho; Jee Won Mok; Kyung Sun Na; Chang Rae Rho; Yong Soo Byun; Ho Sik Hwang; Kyu Yeon Hwang; Choun-Ki Joo
Journal:  Mol Vis       Date:  2012-07-20       Impact factor: 2.367

2.  Atypical regressive corneal endothelial cysts in long-term confocal follow-up: a case report.

Authors:  Adrian Smedowski; Edward Wylegala; Lukasz Wojcik; Dorota Tarnawska
Journal:  Medicine (Baltimore)       Date:  2015-03       Impact factor: 1.889
  2 in total

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