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Article

[A novel mutation of the alpha-L-iduronidase gene in a patient with mucopolysaccharidosis type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2007

Dou Wei, Peng Chao, Zheng Jun-ke, Gu Xue-fan

Abstract excerpt

OBJECTIVE: To investigate the molecular genetic mechanism of a Chinese patient with mucopolysaccharidosis type I (MPS I). METHODS: PCR-sequencing analysis was applied to detect the mutations in exons in alpha-L-iduronidase gene (IDUA) of the patient. Restriction fragment length polymorphism (RFLP) and allele-specific oligonucleotide hybridization (ASO) were used to confirm the identified mutations. PCR amplified...

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Source

Identifiers

PMID: 17407067

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.

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