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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...

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Principais autores: Alessandra Zanetti, Francesca D’Avanzo, Rosella Tomanin
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2024-12-01
Serier:Human Genomics
Fag:
Mucopolysaccharidosis type II
MPS II
Hunter syndrome
Iduronate 2-sulfatase
IDS
IDS variants
Online adgang:https://doi.org/10.1186/s40246-024-00701-w
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