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Article

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

Human genomics - 2 Dec 2024

Zanetti Alessandra, D'Avanzo Francesca, Tomanin Rosella

Abstract excerpt

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 summarized all published IDS gene variants reported in literature up to June 2023, here providing the first worldwide review and...

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Identifiers

PMID: 39617925
DOI: 10.1186/s40246-024-00701-w
PMCID: PMC11610362

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Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.PMID 39617925Read ↗

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