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Molecular Genetics of FAM161A in North American Patients with Early-Onset Retinitis Pigmentosa
Retinitis pigmentosa (RP) is a hereditary disease that leads to the progressive degeneration of retinal photoreceptor cells and to blindness. It is caused by mutations in several distinct genes, including the ciliary gene FAM161A, which is associated with a recessive form of this disorder. Recent in...
Autores principales: | Venturini, Giulia, Di Gioia, Silvio Alessandro, Harper, Shyana, Weigel-DiFranco, Carol, Rivolta, Carlo, Berson, Eliot L. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3961368/ https://www.ncbi.nlm.nih.gov/pubmed/24651477 http://dx.doi.org/10.1371/journal.pone.0092479 |
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