RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A

RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A

Morquio syndrome A (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficiency of N-acetyl-galactosamine-6-sulfatase (GALNS) which catabolizes the glycosaminoglycans (GAG), keratan sulfate and chondroitin-6-sulfate. Homozygous or compound heterozygo...

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Bibliographic Details
Main Authors: Young Bae Sohn, Curtis Rogers, Jennifer Stallworth, Jessica A. Cooley Coleman, Laura Buch, Erin Jozwiak, Jo Ann Johnson, Tim Wood, Paul Harmatz, Laura Pollard, Raymond J. Louie
Format: Article
Language:English
Published: Elsevier 2022-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
GALNS
GALNS transcript isoform
Aberrant splicing
Morquio syndrome A
Mucopolysaccharidosis IVA
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426922000350

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http://www.sciencedirect.com/science/article/pii/S2214426922000350

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