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

• मुख्य लेखकों: Anna Caciotti (लेखक), Rodolfo Tonin (लेखक), Matthew Mort (लेखक), David N. Cooper (लेखक), Serena Gasperini (लेखक), Miriam Rigoldi (लेखक), Rossella Parini (लेखक), Federica Deodato (लेखक), Roberta Taurisano (लेखक), Michelina Sibilio (लेखक), Giancarlo Parenti (लेखक), Renzo Guerrini (लेखक), Amelia Morrone (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2018-10-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...