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A novel tool for mapping disease severity and outcomes in patients with Gaucher disease utilising the therapeutic goals

✍ Scribed by Neal Weinreb; Nadia Belmatoug; Bruno Bembi; Olaf Bodamer; Maria Domenica Cappellini; Patrick B. Deegan; Deborah Elstein; Gil Faran; Pilar Gilrado; Derralynn A. Hughes; Eugen Mengel; Gregory M. Pastores; Ari Zimran


Book ID
116989248
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
63 KB
Volume
102
Category
Article
ISSN
1096-7192

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The identification of eight novel glucoc
✍ E. Orvisky; J.K. Park; A. Parker; J.M. Walker; B.M. Martin; B.K. Stubblefield; E πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 145 KB πŸ‘ 1 views

Mutations in the gene encoding for the lysosomal enzyme glucocerebrosidase (GBA) result in Gaucher disease. In this study, seven novel missense mutations in the glucocerebrosidase gene (A136E, H162P, K198E, Y205C, F251L, Q350X and I402F) and a splice site mutation (IVS10+2T→A) were identified by dir