Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder caused by the deficiency of the enzyme heparin sulfamidase (EC 3.10.1.1), required for the degradation of the mucopolysaccharide heparan sulfate. Patients develop central nervous system degeneration r
Identification of mutations in four hemophilia B patients of Turkish origin, including a novel deletion of base 6411
✍ Scribed by S. Hande Çaǧlayan; Erica Vielhaber; Türkiz Gürsel; Gülten Aktuǧlu; Steve S. Sommer
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 233 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1059-7794
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