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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Main Authors: Anna Caciotti (Author), Rodolfo Tonin (Author), Matthew Mort (Author), David N. Cooper (Author), Serena Gasperini (Author), Miriam Rigoldi (Author), Rossella Parini (Author), Federica Deodato (Author), Roberta Taurisano (Author), Michelina Sibilio (Author), Giancarlo Parenti (Author), Renzo Guerrini (Author), Amelia Morrone (Author)
Format: Book
Published: BMC, 2018-10-01T00:00:00Z.
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