Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

• Główni autorzy: Anna Caciotti (Autor), Rodolfo Tonin (Autor), Matthew Mort (Autor), David N. Cooper (Autor), Serena Gasperini (Autor), Miriam Rigoldi (Autor), Rossella Parini (Autor), Federica Deodato (Autor), Roberta Taurisano (Autor), Michelina Sibilio (Autor), Giancarlo Parenti (Autor), Renzo Guerrini (Autor), Amelia Morrone (Autor)
• Format: Książka
• Wydane: BMC, 2018-10-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract Background Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (GALNS) gene. Since standard DNA sequencing analysis fails to detect a...