Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants

Abstract Purpose Mucopolysaccharidosis type II (MPS II) is a rare X-linked lysosomal storage disorder caused by genetic alterations in the iduronate 2-sulfatase (IDS) gene. A wide range of variants has been reported for different countries and ethnic groups. We collected, analyzed and uniformly summ...

Descripció completa

Dades bibliogràfiques

Autors principals:	Alessandra Zanetti, Francesca D’Avanzo, Rosella Tomanin
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2024-12-01
Col·lecció:	Human Genomics
Matèries:	Mucopolysaccharidosis type II MPS II Hunter syndrome Iduronate 2-sulfatase IDS IDS variants
Accés en línia:	https://doi.org/10.1186/s40246-024-00701-w
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!