Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.

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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Main Authors: Naushin H Waseem, Sancy Low, Amna Z Shah, Deepa Avisetti, Pia Ostergaard, Michael Simpson, Katarzyna A Niemiec, Belen Martin-Martin, Hebah Aldehlawi, Saima Usman, Pak Sang Lee, Anthony P Khawaja, Jonathan B Ruddle, Ameet Shah, Ege Sackey, Alexander Day, Yuzhen Jiang, Geoff Swinfield, Ananth Viswanathan, Giovanna Alfano, Christina Chakarova, Heather J Cordell, David F Garway-Heath, Peng T Khaw, Shomi S Bhattacharya, Ahmad Waseem, Paul J Foster
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-04-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1008721

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https://doi.org/10.1371/journal.pgen.1008721

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