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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Hlavní autoři: Kawasaki, Satoshi, Yamasaki, Kenta, Nakagawa, Hiroko, Shinomiya, Katsuhiko, Nakatsukasa, Mina, Nakai, Yoshihide, Kinoshita, Shigeru
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2012
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3534130/
https://ncbi.nlm.nih.gov/pubmed/23288988
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