Human patient SFPQ homozygous mutation is found deleterious for brain and motor development in a zebrafish model
Patricia M Gordon, Stéphanie Efthymiou, Vincenzo Salpietro, Triona Fielding, Eugenia Borgione, Carmela Scuderi, Henry Houlden, Corinne Houart
The paper identifies a homozygous SFPQ mutation in a human patient with neurological features and shows its deleterious effects in a zebrafish model.
bioRxiv · Mar 18, 2020 · PreprintNeuroscience