Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome

Mucopolysaccharidosis IVA or Morquio A syndrome is a rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase deficiency. A diagnosis can be provided by the identification of reduced N-acetylgalactosamine-6-sulfatase activity as well as detection of compound heterozygous or homozy...

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Principais autores:	Kathryn DeLong, Annette Feigenbaum, Laura Pollard, Andrew Lay, Timothy Wood
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2022-12-01
coleção:	Molecular Genetics and Metabolism Reports
Assuntos:	Morquio A syndrome MPS IVA Homozygous deletion GALNS Lysosomal storage disorder
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S2214426922000805
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