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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Detalles Bibliográficos
Autores principales: Tomanin, Rosella, Karageorgos, Litsa, Zanetti, Alessandra, Al‐Sayed, Moeenaldeen, Bailey, Mitch, Miller, Nicole, Sakuraba, Hitoshi, Hopwood, John J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Mutation Updates
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282714/
https://www.ncbi.nlm.nih.gov/pubmed/30118150
http://dx.doi.org/10.1002/humu.23613

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