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Development of a novel animal model for the syndrome of inclusion body myopathy, Paget's disease and fronto-temporal dementia

✍ Scribed by A. Daroszewska; L. Rose; K. Rose; R. Sedlmeier; R.J. van 't Hof; S.H. Ralston


Book ID
116321658
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
50 KB
Volume
44
Category
Article
ISSN
8756-3282

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A novel mutation in the VCP gene (G157R)
✍ Atbin Djamshidian; Jochen Schaefer; Dietrich Haubenberger; Elisabeth Stogmann; F 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 115 KB 👁 1 views

## Abstract Mutations in the valosin‐containing protein (__VCP__) are known to cause autosomal‐dominant inclusion‐body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). We report a novel missense mutation (G157R) in the N‐terminal region of the __VCP__ gene in a German fam