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

• मुख्य लेखकों: Lorenzo Ferri (लेखक), Giuseppina Covello (लेखक), Anna Caciotti (लेखक), Renzo Guerrini (लेखक), Michela Alessandra Denti (लेखक), Amelia Morrone (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Elsevier, 2016-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...