Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP is genetically heterogeneous and the genes identified to date encode proteins involved in a wide range of functional pathways, including photoreceptor development, phototransduction, the retinoid cycle, cilia, and...

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Bibliografische gegevens
Gepubliceerd in:Am J Hum Genet
Hoofdauteurs: Arno, Gavin, Agrawal, Smriti A., Eblimit, Aiden, Bellingham, James, Xu, Mingchu, Wang, Feng, Chakarova, Christina, Parfitt, David A., Lane, Amelia, Burgoyne, Thomas, Hull, Sarah, Carss, Keren J., Fiorentino, Alessia, Hayes, Matthew J., Munro, Peter M., Nicols, Ralph, Pontikos, Nikolas, Holder, Graham E., Asomugha, Chinwe, Raymond, F. Lucy, Moore, Anthony T., Plagnol, Vincent, Michaelides, Michel, Hardcastle, Alison J., Li, Yumei, Cukras, Catherine, Webster, Andrew R., Cheetham, Michael E., Chen, Rui
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2016
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5142109/
https://ncbi.nlm.nih.gov/pubmed/27889058
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.10.008
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