Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations

• Main Authors: Lorenzo Ferri (Author), Giuseppina Covello (Author), Anna Caciotti (Author), Renzo Guerrini (Author), Michela Alessandra Denti (Author), Amelia Morrone (Author)
• Format: Book
• Published: Elsevier, 2016-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Fabry disease is a rare X-linked lysosomal storage disorder caused by deficiency of the α-galactosidase A (α-Gal A) enzyme, which is encoded by the GLA gene. GLA transcription in humans produces a major mRNA encoding α-Gal A and a minor mRNA of unknown function, which retains a 57-nucleotide-long cr...