Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Blindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. PNPLA6 encodes the patatin-like phospholipase domain containing protein 6, also known as neuropathy target esterase (NTE), which is the target of toxic organophosphates that...

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Published in:Nat Commun
Main Authors: Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I.M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., Piherová, L., Kuchař, L., Baxová, A., Chen, R., Barsottini, O.G.P., Pyle, A., Griffin, H., Splitt, M., Sallum, J., Tolmie, J.L., Sampson, J.R., Chinnery, P., Canada, Care4Rare, Banin, E., Sharon, D., Dutta, S., Grebler, R., Helfrich-Foerster, C., Pedroso, J.L., Kretzschmar, D., Cayouette, M., Koenekoop, R.K.
Format: Artigo
Language:Inglês
Published: 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4356490/
https://ncbi.nlm.nih.gov/pubmed/25574898
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms6614
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