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

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

Research output: Contribution to journalComment/debate

1 Scopus citations
Original languageEnglish (US)
Pages (from-to)512
Number of pages1
JournalHuman mutation
Volume35
Issue number4
DOIs
StatePublished - Apr 2014
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Mclaughlin, H. M., Sakaguchi, R., Giblin, W., Wilson, T. E., Biesecker, L., Lupski, J. R., Talbot, K., Vance, J. M., Züchner, S., Lee, Y. C., Kennerson, M., Hou, Y. M., Nicholson, G., & Antonellis, A. (2014). A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N). Human mutation, 35(4), 512. https://doi.org/10.1002/humu.22527