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 L Zuchner, Yi Chung Lee, Marina Kennerson, Ya Ming Hou, Garth Nicholson, Anthony Antonellis

Research output: Contribution to journal › Article

1 Citation (Scopus)
Original languageEnglish
Pages (from-to)512-512
Number of pages1
JournalHuman Mutation
Volume35
Issue number4
DOIs
StatePublished - Jan 1 2014
Externally publishedYes

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Alanine-tRNA Ligase
Charcot-Marie-Tooth Disease
Mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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Mclaughlin, H. M., Sakaguchi, R., Giblin, W., Wilson, T. E., Biesecker, L., Lupski, J. R., ... 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), 512-512. https://doi.org/10.1002/humu.22527

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N). / Mclaughlin, Heather M.; Sakaguchi, Reiko; Giblin, William; Wilson, Thomas E.; Biesecker, Leslie; Lupski, James R.; Talbot, Kevin; Vance, Jeffery M; Zuchner, Stephan L; Lee, Yi Chung; Kennerson, Marina; Hou, Ya Ming; Nicholson, Garth; Antonellis, Anthony.

In: Human Mutation, Vol. 35, No. 4, 01.01.2014, p. 512-512.

Research output: Contribution to journal › Article

Mclaughlin, HM, Sakaguchi, R, Giblin, W, Wilson, TE, Biesecker, L, Lupski, JR, Talbot, K, Vance, JM, Zuchner, SL, Lee, YC, Kennerson, M, Hou, YM, 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, vol. 35, no. 4, pp. 512-512. https://doi.org/10.1002/humu.22527
Mclaughlin HM, Sakaguchi R, Giblin W, Wilson TE, Biesecker L, Lupski JR et al. A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N). Human Mutation. 2014 Jan 1;35(4):512-512. https://doi.org/10.1002/humu.22527
Mclaughlin, Heather M. ; Sakaguchi, Reiko ; Giblin, William ; Wilson, Thomas E. ; Biesecker, Leslie ; Lupski, James R. ; Talbot, Kevin ; Vance, Jeffery M ; Zuchner, Stephan L ; Lee, Yi Chung ; Kennerson, Marina ; Hou, Ya Ming ; Nicholson, Garth ; Antonellis, Anthony. / A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N). In: Human Mutation. 2014 ; Vol. 35, No. 4. pp. 512-512.
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