Gaucher disease results from mutations in the glucocerebrosidase gene (GBA/GeneBank J03059) located on human chromosome 1q21. Three clinical forms of Gaucher disease have been described: type 1, nonneuropathic; type 2, acute neuropathic; and type 3, subacute neuropathic. We have identified a novel m
Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family
โ Scribed by Shamseddine, A. ;Taher, A. ;Fakhani, S. ;Zhang, M. ;Scott, C. Ronald ;Habbal, M.Z.
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 62 KB
- Volume
- 125A
- Category
- Article
- ISSN
- 0148-7299
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