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Article

[Genetic mutations and the relationship with clinical phenotype in patients with mucopolysaccharidosis type I in northeast Mexico].

Gaceta medica de Mexico - 1 Jan 2000

Sánchez Suárez Ana Laura, Sánchez Sánchez Luz María

Abstract excerpt

INTRODUCTION: The mutations found in the IDUA gene depend on racial and genetic background. The aim of this paper is to determine the mutations of the IDUA gene in patients with MPS I in the Northeast of Mexico and the relationship with phenotype. RESULTS: Molecular studies were performed in seven patients from Nuevo Leon with MPS I. Five patients had Hurler-Scheie phenotype and two had Hurler phenotype. Four...

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Source

Identifiers

PMID: 25098213

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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