Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

• Published in: Case reports in genetics Vol. 2016; no. 2016; pp. 1 - 6
• Main Authors: Drousiotou, Anthi, Tanteles, George A., Sismani, Carolina, Krasia, Maria, Christodoulides, Theodoros, Savva, Isavella, Spanou-Aristidou, Elena, Alexandrou, Angelos, Mavrikiou, Gavriella, Georgiou, Theodoros, Anastasiadou, Violetta
• Format: Journal Article
• Language: English
• Published: Cairo, Egypt Hindawi Publishing Corporation 01.01.2016; John Wiley & Sons, Inc; Hindawi Limited
• Subjects: Case Report; DNA sequencing; Enzymes; Nucleotide sequencing

Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the hydrolytic enzyme α-galactosidase A (α-Gal-A). It is characterized by progressive lysosomal accumulation of globotriaosylceramide (Gb3) and multisystem pathology, affecting the skin, nervous and cerebrovascula...