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A Recurrent Loss-of-Function Alanyl-tRNA Synthetase ( AARS ) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

✍ Scribed by McLaughlin, Heather M.; Sakaguchi, Reiko; Giblin, William; Wilson, Thomas E.; Biesecker, Leslie; Lupski, James R.; Talbot, Kevin; Vance, Jeffery M.; Züchner, Stephan; Lee, Yi-Chung; Kennerson, Marina; Hou, Ya-Ming; Nicholson, Garth; Antonellis, Anthony


Book ID
121708925
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
78 KB
Volume
35
Category
Article
ISSN
1059-7794

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A Recurrent loss-of-function alanyl-tRNA
✍ Heather M. McLaughlin; Reiko Sakaguchi; William Giblin; NIH Intramural Sequencin 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 426 KB 👁 1 views

Charcot-Marie-Tooth (CMT) disease comprises a heterogeneous group of peripheral neuropathies characterized by muscle weakness and wasting, and impaired sensation in the extremities. Four genes encoding an aminoacyl-tRNA synthetase (ARS) have been implicated in CMT disease. ARSs are ubiquitously expr