Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants

Genetic mutations are frequently associated with diverse phenotypic consequences, which limits the interpretation of the consequence of a variation in patients. Mutations in the retinitis pigmentosa 2 (RP2) gene are associated with X-linked RP, which is a phenotypically heterogenic form of retinal d...

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Detalles Bibliográficos
Autores principales: Patil, Suresh B., Hurd, Toby W., Ghosh, Amiya K., Murga-Zamalloa, Carlos A., Khanna, Hemant
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3124502/
https://www.ncbi.nlm.nih.gov/pubmed/21738648
http://dx.doi.org/10.1371/journal.pone.0021379

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3124502/
https://www.ncbi.nlm.nih.gov/pubmed/21738648
http://dx.doi.org/10.1371/journal.pone.0021379

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