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Article

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype.

Human molecular genetics - 1 Sept 1993

Scott H S, Nelson P V, Litjens T, Hopwood J J, Morris C P

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Share to Base Sequence
Share to DNA Mutational Analysis
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Share to Iduronidase

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

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Share to Mucopolysaccharidosis I

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 8242073
DOI: 10.1093/hmg/2.9.1471

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

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype.PMID 8242073Read ↗

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

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.Semantic proximity Read ↗

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

Identification of a novel mutation of Alpha-L-iduronidase gene in Tunisian familiesSemantic proximity Read ↗

Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.Semantic proximity Read ↗

IDUA mutational profile and genotype-phenotype relationships in UK patients with 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 ↗

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

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

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

Mucopolysaccharidosis type II: an update on mutation spectrum.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 ↗

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