𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D)

✍ Scribed by A. J. Walley; I. Ellis; A. Harris


Book ID
114714246
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
264 KB
Volume
91
Category
Article
ISSN
0007-1048

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Three novel point mutations in the dystr
✍ Adriana Lasa; Pia Gallano; Montserrat Baiget πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 84 KB πŸ‘ 2 views

Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of