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Article

Mutations among Italian mucopolysaccharidosis type I patients.

Journal of inherited metabolic disease - 1 Nov 1997

Gatti R, DiNatale P, Villani G R, Filocamo M, Muller V, Guo X H, Nelson P V, Scott H S, Hopwood J J

Abstract excerpt

A group of 27 Italian patients was screened for alpha-L-iduronidase mucopolysaccharidosis type I mutations. Mutations were found in 18 patients, with 28 alleles identified. The two most common mutations in northern Europeans (W402X and Q70X) accounted for 11% and 13% of the alleles, respectively. The R89Q mutation, uncommon in Europeans, was found only in one patient, accounting for 1 of 54 alleles (1.9%). The...

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Identifiers

PMID: 9427149
DOI: 10.1023/a:1005323918923

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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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