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Identification and Characterization of the Molecular Lesion Causing Mucopolysaccharidosis Type I in Cats

โœ Scribed by Xingxuan He; Chi-Ming Li; Calogera M. Simonaro; Qi Wan; Mark E. Haskins; Robert J. Desnick; Edward H. Schuchman

Book ID
115639545
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
99 KB
Volume
67
Category
Article
ISSN
1096-7192

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๐Ÿ“œ SIMILAR VOLUMES

Identification and molecular characteriz
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Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a deficiency of alpha-L-iduronidase (IDUA). Mutations in the gene are responsible for the enzyme deficiency, which leads to the intralysosomal storage of the partially degraded glycosaminoglycans derm

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## Sly a-L-Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I; MI'S-I) is an inborn error of lysosomal degradation of glycosaminoglycans that results in storage of undegraded glycosaminoglycans in lysosomes. Previous studies in Caucasian populations showed that ( 1) homozygosity or compou