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

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

Human mutation - 1 Jan 1992

Scott H S, Litjens T, Nelson P V, 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 glycosidase alpha-L-iduronidase which is required for the lysosomal degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. Patients with MPS-I store forms of these partially degraded glycosaminoglycans in their lysosomes. MPS-I patients present with a wide range of clinical phenotypes,...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Amino Acid Sequence
Share to Base Sequence

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

Share to Genotype

Share to Molecular Sequence Data

Share to Phenotype

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 1301941
DOI: 10.1002/humu.1380010412

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

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.PMID 1301941Read ↗

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

Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online.Semantic proximity Read ↗

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

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.Semantic proximity Read ↗

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

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.Semantic proximity Read ↗

Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.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 genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.Semantic proximity Read ↗

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.Semantic proximity Read ↗

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

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.Semantic proximity Read ↗

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