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Article

Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects.

Annals of human genetics - 1 Jan 1999

Alif N, Hess K, Straczek J, Sebbar S, N'Bou A, Nabet P, Dousset B

Abstract excerpt

A group of 13 Moroccan patients with MPS I and their families, including three siblings and twin siblings, was screened for mutations of the alpha-L-iduronidase gene using fluorescence-assisted mismatch analysis (FAMA) and cycle sequencing of PCR products. The P533R mutation, which is rare in Europeans, was identified in 92% of mutant alleles (24/26). This is the highest frequency of this mutation detected in...

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Identifiers

PMID: 10738517
DOI: 10.1046/j.1469-1809.1999.6310009.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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