Article
Mutational analysis of MIR184 in sporadic keratoconus and myopia.
Investigative ophthalmology & visual science - 5 Aug 2013
Lechner Judith, Bae Ha Ae, Guduric-Fuchs Jasenka, Rice Aine, Govindarajan Gowthaman, Siddiqui Salina, Abi Farraj Layal, Yip Shea Ping, Yap Maurice, Das Manoranjan, Souzeau Emmanuelle, Coster Doug, Mills Richard A, Lindsay Richard, Phillips Tony, Mitchell Paul, Ali Manir, Inglehearn Chris F, Sundaresan Periasamy, Craig Jamie E, Simpson David A, Burdon Kathryn P, Willoughby Colin E
Abstract excerpt
PURPOSE: A mutation miR-184(+57C>T) in the seed region of miR-184 (encoded by MIR184 [MIM*613146]) results in familial severe keratoconus combined with early-onset anterior polar cataract and endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT) syndrome (MIM#614303). In order to investigate the phenotypic spectrum resulting from MIR184 mutation, MIR184 was sequenced in a...
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