Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing

PURPOSE: The goal of this study was to identify mutations in X-chromosomal genes associated with retinitis pigmentosa (RP) in patients from Germany, The Netherlands, Denmark, and Switzerland. METHODS: In addition to all coding exons of RP2, exons 1 through 15, 9a, ORF15, 15a and 15b of RPGR were scr...

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Detalles Bibliográficos
Autores principales: Neidhardt, John, Glaus, Esther, Lorenz, Birgit, Netzer, Christian, Li, Yün, Schambeck, Maria, Wittmer, Mariana, Feil, Silke, Kirschner-Schwabe, Renate, Rosenberg, Thomas, Cremers, Frans P.M., Bergen, Arthur A.B., Barthelmes, Daniel, Baraki, Husnia, Schmid, Fabian, Tanner, Gaby, Fleischhauer, Johannes, Orth, Ulrike, Becker, Christian, Wegscheider, Erika, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno Jörn, Gal, Andreas, Berger, Wolfgang
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2426717/
https://www.ncbi.nlm.nih.gov/pubmed/18552978

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