AHI1 is required for outer segment development and is a modifier for retinal degeneration in nephronophthisis

Photoreceptor degeneration is a common feature of ciliopathies, owing to the importance of the highly specialized ciliary structure of these cells. Absence of AHI1, which encodes a cilium-localized protein, has been shown to cause a form of Joubert syndrome highly penetrant for retinal degeneration1...

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Detalles Bibliográficos
Autores principales: Louie, Carrie M, Caridi, Gianluca, Lopes, Vanda S, Brancati, Francesco, Kispert, Andreas, Lancaster, Madeline A, Schlossman, Andrew M, Otto, Edgar A, Leitges, Michael, Groene, Hermann-Josef, Lopez, Irma, Gudiseva, Harini V, O’Toole, John F, Vallespin, Elena, Ayyagari, Radha, Ayuso, Carmen, Cremers, Frans P, den Hollander, Anneke I, Koenekoop, Robert K, Dallapiccola, Bruno, Ghiggeri, Gian Marco, Hildebrandt, Friedhelm, Valente, Enza Maria, Williams, David S, Gleeson, Joseph G
Formato: Texto
Lenguaje:English
Publicado: 2010
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2884967/
https://www.ncbi.nlm.nih.gov/pubmed/20081859
http://dx.doi.org/10.1038/ng.519

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