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N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI

✍ Scribed by Calogera Maria Simonaro; Edward Howard Schuchman


Book ID
116159941
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
448 KB
Volume
1272
Category
Article
ISSN
0925-4439

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## Mucopolysaccharidosis type VI (MPS-VI ) is an autosomal recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-4-sulfatase (4S; or ARSB). Mutations in the 4S gene are responsible for 4S deficiency, which leads to the intralysosomal storage of partially degraded g