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

doi:10.1002/humu.22527

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

Hussman Institute for Human Genomics

Research output: Contribution to journal › Comment/debate › peer-review

1 Scopus citations

Original language	English (US)
Pages (from-to)	512
Number of pages	1
Journal	Human mutation
Volume	35
Issue number	4
DOIs	https://doi.org/10.1002/humu.22527
State	Published - Apr 2014

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/humu.22527

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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

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.; Züchner, Stephan; Lee, Yi Chung; Kennerson, Marina; Hou, Ya Ming; Nicholson, Garth; Antonellis, Anthony.

In: Human mutation, Vol. 35, No. 4, 04.2014, p. 512.

Research output: Contribution to journal › Comment/debate › peer-review

Mclaughlin, HM, Sakaguchi, R, Giblin, W, Wilson, TE, Biesecker, L, Lupski, JR, Talbot, K, Vance, JM , Züchner, S, 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. 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. ; Züchner, Stephan ; 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.

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