Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene

Maroteaux–Lamy syndrome (MPS VI) is an autosomal recessive lysosomal storage disorder caused by pathogenic ARSB gene variants, commonly diagnosed through clinical findings and deficiency of the arylsulfatase B (ASB) enzyme. Detection of ARSB pathogenic variants can independently confirm diagnosis an...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Tomanin, Rosella, Karageorgos, Litsa, Zanetti, Alessandra, Al‐Sayed, Moeenaldeen, Bailey, Mitch, Miller, Nicole, Sakuraba, Hitoshi, Hopwood, John J.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Mutation Updates
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6282714/
https://ncbi.nlm.nih.gov/pubmed/30118150
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23613
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