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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 |
Published version: | http://dx.doi.org/10.1023/a:1005323918923 |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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