## 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
โฆ LIBER โฆ
Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis
โ Scribed by M.G. Pittis; A.L.E. Montalvo; P. Heikinheimo; M. Sbaragli; C. Balducci; E. Persichetti; L. Van Maldergem; M. Filocamo; B. Bembi; T. Beccari
- Book ID
- 116347334
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 371 KB
- Volume
- 375
- Category
- Article
- ISSN
- 0009-8981
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The lysosomal storage disorder alphamannosidosis is caused by deficiency of the enzyme lysosomal alpha-mannosidase (MAN2B1). In this study, 96 disease-associated sequence variants were identified in 130 unrelated alpha-mannosidosis patients from 30 countries. Eighty-three novel variants were detecte