Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

Current estimates suggest 50% of glaucoma blindness worldwide is caused by primary angle-closure glaucoma (PACG) but the causative gene is not known. We used genetic linkage and whole genome sequencing to identify Spermatogenesis Associated Protein 13, SPATA13 (NM_001166271; NP_001159743, SPATA13 is...

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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: Waseem, Naushin H., Low, Sancy, Shah, Amna Z., Avisetti, Deepa, Ostergaard, Pia, Simpson, Michael, Niemiec, Katarzyna A., Martin-Martin, Belen, Aldehlawi, Hebah, Usman, Saima, Lee, Pak Sang, Khawaja, Anthony P., Ruddle, Jonathan B., Shah, Ameet, Sackey, Ege, Day, Alexander, Jiang, Yuzhen, Swinfield, Geoff, Viswanathan, Ananth, Alfano, Giovanna, Chakarova, Christina, Cordell, Heather J., Garway-Heath, David F., Khaw, Peng T., Bhattacharya, Shomi S., Waseem, Ahmad, Foster, Paul J.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7233598/
https://ncbi.nlm.nih.gov/pubmed/32339198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1008721
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