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|Title:||Mutations among Italian mucopolysaccharidosis Type I patients|
Di Natale, P.
|Citation:||Journal of Inherited Metabolic Disease, 1997; 20(6):803-806|
|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.|
|Rights:||© SSIEM and Kluwer Academic Publishers|
|Appears in Collections:||Aurora harvest 5|
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