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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...

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Dettagli Bibliografici
Autori principali: Venturini, Giulia, Di Gioia, Silvio Alessandro, Harper, Shyana, Weigel-DiFranco, Carol, Rivolta, Carlo, Berson, Eliot L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3961368/
https://ncbi.nlm.nih.gov/pubmed/24651477
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0092479
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