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Mucopolysaccharidosis type I: Identification of 13 novel mutations of the α-L-iduronidase gene

✍ Scribed by Susanna Bunge; Wim J. Kleijer; Cordula Steglich; Michael Beck; Eberhard Schwinger; Andreas Gal


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
345 KB
Volume
6
Category
Article
ISSN
1059-7794

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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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