Identification of mutations in exon 14 including five novelties in 13 Italian patients with haemophilia A
β Scribed by M. Acquila; M. Pasino; T. Lanza; A. C. Molinari; D. Caprino; F. Bottini; M. P. Bicocchi
- Book ID
- 108772378
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 42 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1351-8216
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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
## Mutation analysis performed on six Italian families with alpha-mannosidosis type II, allowed the identification of five new mutations in the MAN2B1 gene: c.157G>T, c.562C>T, c.599A>T, c.293dupA, c.2402G>A (p.E53X, p.R188X, p.H200L, p.Y99VfsX61, p.G801D). Protein residues G801 and H200 are conse