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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Dades bibliogràfiques
Publicat a:Hum Mutat
Autors principals: Tomanin, Rosella, Karageorgos, Litsa, Zanetti, Alessandra, Al‐Sayed, Moeenaldeen, Bailey, Mitch, Miller, Nicole, Sakuraba, Hitoshi, Hopwood, John J.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
Matèries:
Mutation Updates
Accés en línia: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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