Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/7515
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Type: Journal article
Title: Mutations among Italian mucopolysaccharidosis Type I patients
Author: Gatti, R.
Di Natale, P.
Villani, G.
Filocamo, M.
Muller, V.
Guo, X.H.
Nelson, P.
Scott, H.
Hopwood, J.
Citation: Journal of Inherited Metabolic Disease, 1997; 20(6):803-806
Publisher: Springer Verlag
Issue Date: 1997
ISSN: 1573-2665
1573-2665
Statement of
Responsibility: 
R. Gatti, P. DiNatale, G.R.D. Villani, M. Filocamo, V. Muller, X.-H. Guo, P.V. Nelson, H.S. Scott, J. J. Hopwood
Abstract: A group of 27 Italian patients was screened for -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 other mutations, P533R, A327P and G51D, accounted for 11%, 5.6% and 9.3% of the total alleles, respectively. Interestingly, the high frequency of the P533R mutation seems to be confined to Sicily and is higher than the 3% reported in a British/Australian study.
Keywords: Humans
Mucopolysaccharidosis I
Iduronidase
DNA
Gene Frequency
Genotype
Heterozygote
Homozygote
Phenotype
Mutation
Alleles
Adolescent
Child
Italy
Sicily
Male
Rights: © SSIEM and Kluwer Academic Publishers
DOI: 10.1023/A:1005323918923
Appears in Collections:Aurora harvest 5
Paediatrics publications

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