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Article

Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I.

Genomics - 1 Nov 1992

Menon K P, Tieu P T, Neufeld E F

Abstract excerpt

Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease caused by deficiency of alpha-L-iduronidase. In addition to the well-known human forms (Hurler, Hurler/Scheie, and Scheie syndromes), there exists a canine model of the disease. By using previously described canine cDNA encoding alpha-L-iduronidase as a probe, the canine IDUA gene has been cloned and characterized. It contains 14 exons spread over 13...

Topics

Animals
Base Sequence
Cell Line
DNA
Disease Models, Animal
Dogs
Iduronidase
Molecular Sequence Data
Mucopolysaccharidosis I
Mutation
RNA Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1339393
DOI: 10.1016/s0888-7543(05)80182-x

Genes

IDUA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1339393-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I.PMID 1339393Read ↗

Cloning and characterization of cDNA encoding canine alpha-L-iduronidase. mRNA deficiency in mucopolysaccharidosis I dog.Semantic proximity Read ↗

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

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

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

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

Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele.Semantic proximity Read ↗

A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I.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 ↗

A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).Semantic proximity Read ↗

Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.Semantic proximity Read ↗

Promoter mutation and reduced expression of BRCA1 in canine mammary tumors.Semantic proximity Read ↗

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