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https://hdl.handle.net/2440/7515
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dc.contributor.author | Gatti, R. | - |
dc.contributor.author | Di Natale, P. | - |
dc.contributor.author | Villani, G. | - |
dc.contributor.author | Filocamo, M. | - |
dc.contributor.author | Muller, V. | - |
dc.contributor.author | Guo, X.H. | - |
dc.contributor.author | Nelson, P. | - |
dc.contributor.author | Scott, H. | - |
dc.contributor.author | Hopwood, J. | - |
dc.date.issued | 1997 | - |
dc.identifier.citation | Journal of Inherited Metabolic Disease, 1997; 20(6):803-806 | - |
dc.identifier.issn | 1573-2665 | - |
dc.identifier.issn | 1573-2665 | - |
dc.identifier.uri | http://hdl.handle.net/2440/7515 | - |
dc.description.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. | - |
dc.description.statementofresponsibility | R. Gatti, P. DiNatale, G.R.D. Villani, M. Filocamo, V. Muller, X.-H. Guo, P.V. Nelson, H.S. Scott, J. J. Hopwood | - |
dc.language.iso | en | - |
dc.publisher | Springer Verlag | - |
dc.rights | © SSIEM and Kluwer Academic Publishers | - |
dc.source.uri | http://dx.doi.org/10.1023/a:1005323918923 | - |
dc.subject | Humans | - |
dc.subject | Mucopolysaccharidosis I | - |
dc.subject | Iduronidase | - |
dc.subject | DNA | - |
dc.subject | Gene Frequency | - |
dc.subject | Genotype | - |
dc.subject | Heterozygote | - |
dc.subject | Homozygote | - |
dc.subject | Phenotype | - |
dc.subject | Mutation | - |
dc.subject | Alleles | - |
dc.subject | Adolescent | - |
dc.subject | Child | - |
dc.subject | Italy | - |
dc.subject | Sicily | - |
dc.subject | Male | - |
dc.title | Mutations among Italian mucopolysaccharidosis Type I patients | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1023/A:1005323918923 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Scott, H. [0000-0002-5813-631X] | - |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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