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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Vydáno v:Am J Hum Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2016
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On-line přístup: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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