A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

by Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou
Published 2020-03-01

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

by Theodoros Georgiou, Gavriella Mavrikiou, Angelos Alexandrou, Elena Spanou-Aristidou, Isavella Savva, Theodoros Christodoulides, Maria Krasia, Violetta Christophidou-Anastasiadou, Carolina Sismani, Anthi Drousiotou, George A. Tanteles
Published 2016-01-01