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

Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

American journal of human genetics - 1 Nov 1993

Scott H S, Litjens T, Nelson P V, Thompson P R, Brooks D A, Hopwood J J, Morris C P

Abstract excerpt

Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive genetic disease caused by a deficiency of the lysosomal glycosidase alpha-L-iduronidase. Hurler (severe), Scheie (mild), and Hurler/Scheie (intermediate) syndromes are clinical subtypes of MPS-I, but it is difficult to distinguish between these subtypes by biochemical measurements. Mutation analysis was undertaken to provide a molecular explanation...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Cell Line
Share to DNA

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Molecular Sequence Data

Share to Mutation

Share to Phenotype

Share to Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 8213840
PMCID: PMC1682315

Genes

IDUA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.PMID 8213840Read ↗

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

Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome.Semantic proximity Read ↗

Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.Semantic proximity Read ↗

Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity.Semantic proximity Read ↗

A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.Semantic proximity Read ↗

A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.Semantic proximity Read ↗

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

Mucopolysaccharidosis Type ISemantic proximity Read ↗

Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.Semantic proximity Read ↗

Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms.Semantic proximity Read ↗

Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.Semantic proximity Read ↗

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

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