Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa

PURPOSE: The purpose of this project was to determine the spectrum and frequency of mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) that cause autosomal dominant retinitis pigmentosa (adRP). METHODS: A well-characterized adRP cohort of 251 families was tested for mutations in the...

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Detalles Bibliográficos
Autores principales: Bowne, Sara J., Sullivan, Lori S., Avery, Cheryl E., Sasser, Elizabeth M., Roorda, Austin, Duncan, Jacque L., Wheaton, Dianna H., Birch, David G., Branham, Kari E., Heckenlively, John R., Sieving, Paul A., Daiger, Stephen P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850977/
https://www.ncbi.nlm.nih.gov/pubmed/24319334

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850977/
https://www.ncbi.nlm.nih.gov/pubmed/24319334

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