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Mutational analysis of Turkish galactosaemia patients

✍ Scribed by T. Coskun; E. Erkul; V. Seyrantepe; M. Özgüç; A. Tokatli; İ Özalp


Publisher
Springer
Year
1995
Tongue
English
Weight
140 KB
Volume
18
Category
Article
ISSN
0141-8955

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## Communicated by William Sly Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. ARSB is a lysosomal enzyme involved in the degradation of the glycosaminoglycans