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α-l-Iduronidase Premature Stop Codons and Potential Read-Through in Mucopolysaccharidosis Type I Patients

✍ Scribed by Leanne K Hein; Michael Bawden; Vivienne J Muller; David Sillence; John J Hopwood; Doug A Brooks


Book ID
116661265
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
356 KB
Volume
338
Category
Article
ISSN
0022-2836

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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