Literature DB >> 15302666

Unusual phenotype of an individual with the R124C mutation in the TGFBI gene.

Naoyuki Morishige1, Tai-ichiro Chikama, Yoshitsugu Ishimura, Teruo Nishida, Mutsuo Takahashi, Yukihiko Mashima.   

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Year:  2004        PMID： 15302666     DOI： 10.1001/archopht.122.8.1224

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  4 in total

1.  Rapid genotyping for most common TGFBI mutations with real-time polymerase chain reaction.

Authors:  Shigeo Yoshida; Yoko Yamaji; Ayako Yoshida; Yoshihiro Noda; Yuji Kumano; Tatsuro Ishibashi
Journal:  Hum Genet       Date:  2005-03-03       Impact factor: 4.132

2.  Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).

Authors:  Pablo Romero; Mauricio Moraga; Luisa Herrera
Journal:  Mol Vis       Date:  2010-08-13       Impact factor: 2.367

3.  Generation of mouse model of TGFBI-R124C corneal dystrophy using CRISPR/Cas9-mediated homology-directed repair.

Authors:  Kohdai Kitamoto; Yukako Taketani; Wataru Fujii; Aya Inamochi; Tetsuya Toyono; Takashi Miyai; Satoru Yamagami; Masahiko Kuroda; Tomohiko Usui; Yasuo Ouchi
Journal:  Sci Rep       Date:  2020-02-06       Impact factor: 4.379

4.  Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

Authors:  Pablo Romero; Marlene Vogel; Jose-Manuel Diaz; Maria-Patricia Romero; Luisa Herrera
Journal:  Mol Vis       Date:  2008-05-07       Impact factor: 2.367
  4 in total

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