Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.

Human mutation - 1 Nov 2017

Ghosh Arunabha, Mercer Jean, Mackinnon Sabrina, Yue Wyatt W, Church Heather, Beesley Clare E, Broomfield Alex, Jones Simon A, Tylee Karen

Abstract excerpt

Mucopolysaccharidosis Type I (MPS I) is a lysosomal storage disorder with varying degrees of phenotypic severity caused by mutations in IDUA. Over 200 disease-causing variants in IDUA have been reported. We describe the profile of disease-causing variants in 291 individuals with MPS I for whom IDUA sequencing was performed, focusing on the UK subset of the cohort. A total of 63 variants were identified, of which...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Enzyme Activation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Iduronidase

Share to Mucopolysaccharidosis I

Share to Sequence Analysis, DNA

Share to Severity of Illness Index

Share to United Kingdom

Source

Identifiers

PMID: 28752568
DOI: 10.1002/humu.23301

Genes

IDUA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.PMID 28752568Read ↗

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I RegistrySemantic proximity Read ↗

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.Semantic proximity Read ↗

Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.Semantic proximity Read ↗

Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil.Semantic proximity Read ↗

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.Semantic proximity Read ↗

Worldwide distribution of common IDUA pathogenic variants.Semantic proximity Read ↗

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.Semantic proximity Read ↗

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.Semantic proximity Read ↗

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

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.Semantic proximity Read ↗

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.Semantic proximity Read ↗

Mucopolysaccharidosis type II: an update on mutation spectrum.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.