Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population

BACKGROUND: Retinitis pigmentosa and other hereditary retinal degenerations (HRD) are rare genetic diseases leading to progressive blindness. Recessive HRD are caused by mutations in more than 100 different genes. Laws of population genetics predict that, on a purely theoretical ground, such a high...

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Detalles Bibliográficos
Autores principales: Nishiguchi, Koji M., Rivolta, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407128/
https://www.ncbi.nlm.nih.gov/pubmed/22848652
http://dx.doi.org/10.1371/journal.pone.0041902

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407128/
https://www.ncbi.nlm.nih.gov/pubmed/22848652
http://dx.doi.org/10.1371/journal.pone.0041902

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