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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2010
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2884967/
https://ncbi.nlm.nih.gov/pubmed/20081859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.519
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