Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

Lesch, Balázs; Szabó, Viktória; Kánya, Melinda; Varsányi, Balázs; Somfai, Gábor M; Hargitai, János; Vámos, Rita; Fiedler, Orsolya; Farkas, Agnes

Lesch, Balázs; Szabó, Viktória; Kánya, Melinda; Varsányi, Balázs; Somfai, Gábor M; Hargitai, János; Vámos, Rita; Fiedler, Orsolya; Farkas, Agnes.

Affiliation

Lesch B; Department of Ophthalmology, Semmelweis University, Budapest, Hungary. lesch_balazs@yahoo.com

Mol Vis ; 14: 1549-58, 2008 Aug 25.

Article in En | MEDLINE | ID: mdl-18728755

Subject(s)

Eye Proteins/genetics; Mutation/genetics; RNA Splice Sites/genetics; Adult; Animals; Base Sequence; Case-Control Studies; Child; DNA Mutational Analysis; Electroretinography; Family; Female; Fundus Oculi; Heterozygote; Humans; Hungary; Male; Mice; Middle Aged; Molecular Sequence Data; Pedigree; Retinoschisis/genetics; Tomography, Optical Coherence; White People/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA Splice Sites / Eye Proteins / Mutation Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Animals / Child / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Mol Vis Journal subject: BIOLOGIA MOLECULAR / OFTALMOLOGIA Year: 2008 Type: Article Affiliation country: Hungary

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