CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA

Author:

Nguyen Xuan-Thanh-An,Talib Mays,van Cauwenbergh Caroline,van Schooneveld Mary J.,Fiocco Marta,Wijnholds Jan,ten Brink Jacoline B.,Florijn Ralph J.,Schalij-Delfos Nicoline E.,Dagnelie Gislin,van Genderen Maria M.,de Baere Elfride,Meester-Smoor Magda A.,De Zaeytijd Julie,Balikova Irina,Thiadens Alberta A.,Hoyng Carel B.,Klaver Caroline C.,van den Born L. Ingeborgh,Bergen Arthur A.,Leroy Bart P.,Boon Camiel J.F.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Ophthalmology,General Medicine

Reference29 articles.

1. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa;Dryja;Proc Natl Acad Sci U S A,1991

2. Non-syndromic retinitis pigmentosa;Verbakel;Prog Retin Eye Res,2018

3. Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB;Zeitz;Invest Ophthalmol Vis Sci,2008

4. Dominant and recessive mutations in rhodopsin activate different cell death pathways;Comitato;Hum Mol Genet,2016

5. Autosomal dominant “sector” retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin;Kranich;Hum Mol Genet,1993

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