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

作者:McLaughlin Heather M; Sakaguchi Reiko; Giblin William; Wilson Thomas E; Biesecker Leslie; Lupski James R; Talbot Kevin; Vance Jeffery M; Zuechner Stephan; Lee Yi Chung; Kennerson Marina; Hou Ya Ming; Nicholson Garth; Antonellis Anthony*
来源:Human Mutation, 2012, 33(1): 244-253.
DOI:10.1002/humu.21635