Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish

Mutations in the gene Centrosomal Protein 290 kDa (CEP290) result in multiple ciliopathies ranging from the neonatal lethal disorder Meckel-Gruber Syndrome to multi-systemic disorders such as Joubert Syndrome and Bardet-Biedl Syndrome to nonsyndromic diseases like Leber Congenital Amaurosis (LCA) an...

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Detalles Bibliográficos
Autores principales: Lessieur, Emma M., Song, Ping, Nivar, Gabrielle C., Piccillo, Ellen M., Fogerty, Joseph, Rozic, Richard, Perkins, Brian D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6457629/
https://www.ncbi.nlm.nih.gov/pubmed/30970040
http://dx.doi.org/10.1371/journal.pone.0213960

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6457629/
https://www.ncbi.nlm.nih.gov/pubmed/30970040
http://dx.doi.org/10.1371/journal.pone.0213960

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