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Type: Artigo de periódico
Title: Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients
Author: Matte, U
Yogalingam, G
Brooks, D
Leistner, S
Schwartz, I
Lima, L
Norato, DY
Brum, JM
Beesley, C
Winchester, B
Giugliani, R
Hopwood, JJ
Abstract: In this study we have investigated a group of 29 Brazilian patients, who had been diagnosed with the lysosomal storage disorder, Mucopolysaccharidosis type I (MPS-I). MPS I is caused by a deficiency in the lysosomal hydrolase, alpha-L-iduronidase. Ninety percent of the MPS I patients in this study were genotyped and revealed 10 recurrent and thirteen novel IDUA gene mutations. Eight of these new mutations and three common mutations W402X, P533R, and R383H were individually expressed in CHO-K1 cells and analyzed for alpha-L-iduronidase protein and enzyme activity. A correlation was observed between the MPS I patient clinical phenotype and the associated mutant alpha-L-iduronidase protein/enzyme activity expressed in CHO-K1 cells. This was the first time that Brazilian MPS I patients had been thoroughly analyzed and highlighted the difficulties of mutation screening and clinical phenotype assessment in populations with high numbers of unique mutations. (C) 2002 Published by Elsevier Science (USA).
Subject: Mucopolysaccharidosis type I
Hurler syndrome
Scheie syndrome
expression studies
lysosomal storage disorders
Country: EUA
Editor: Academic Press Inc Elsevier Science
Rights: fechado
Identifier DOI: 10.1016/S1096-7192(02)00200-7
Date Issue: 2003
Appears in Collections:Unicamp - Artigos e Outros Documentos

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