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

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

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...

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Bibliographic Details
Main Authors: Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone
Format: Article
Language:English
Published: BMC 2018-10-01
Series:BMC Medical Genetics
Subjects:
GALNS
Morquio a disease
Mucopolysaccharidosis IVA
Deep intronic mutations
mRNA defects
Whole gene sequencing
Online Access:http://link.springer.com/article/10.1186/s12881-018-0694-6

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http://link.springer.com/article/10.1186/s12881-018-0694-6

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