A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy

PURPOSE: The phosphoinositide kinase, FYVE finger containing (PIKFYVE) gene has been identified as a gene responsible for fleck corneal dystrophy (FCD). The purpose of this study is to report a novel mutation of the PIKFYVE gene in a Japanese patient with fleck corneal dystrophy. METHODS: Slit-lamp...

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Detalles Bibliográficos
Autores principales: Kawasaki, Satoshi, Yamasaki, Kenta, Nakagawa, Hiroko, Shinomiya, Katsuhiko, Nakatsukasa, Mina, Nakai, Yoshihide, Kinoshita, Shigeru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534130/
https://www.ncbi.nlm.nih.gov/pubmed/23288988

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