TY - JOUR
T1 - Mutations among Italian mucopolysaccharidosis type I patients
AU - Gatti, R.
AU - DiNatale, P.
AU - Villani, G. R D
AU - Filocamo, M.
AU - Miller, V.
AU - Guo, X. H.
AU - Nelson, P. V.
AU - Scott, H. S.
AU - Hopwood, J. J.
PY - 1997
Y1 - 1997
N2 - A group of 27 Italian patients was screened for α-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.
AB - A group of 27 Italian patients was screened for α-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.
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U2 - 10.1023/A:1005323918923
DO - 10.1023/A:1005323918923
M3 - Article
C2 - 9427149
AN - SCOPUS:0030727052
VL - 20
SP - 803
EP - 806
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
IS - 6
ER -