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 journalArticle

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

Fingerprint

Alanine-tRNA Ligase
Charcot-Marie-Tooth Disease
Mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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 journalArticle

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, 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.
@article{8d567b1078344e4d994b1849b4951b6c,
title = "A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)",
author = "Mclaughlin, {Heather M.} and Reiko Sakaguchi and William Giblin and Wilson, {Thomas E.} and Leslie Biesecker and Lupski, {James R.} and Kevin Talbot and Vance, {Jeffery M} and Zuchner, {Stephan L} and Lee, {Yi Chung} and Marina Kennerson and Hou, {Ya Ming} and Garth Nicholson and Anthony Antonellis",
year = "2014",
month = "1",
day = "1",
doi = "10.1002/humu.22527",
language = "English",
volume = "35",
pages = "512--512",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

AU - Mclaughlin, Heather M.

AU - Sakaguchi, Reiko

AU - Giblin, William

AU - Wilson, Thomas E.

AU - Biesecker, Leslie

AU - Lupski, James R.

AU - Talbot, Kevin

AU - Vance, Jeffery M

AU - Zuchner, Stephan L

AU - Lee, Yi Chung

AU - Kennerson, Marina

AU - Hou, Ya Ming

AU - Nicholson, Garth

AU - Antonellis, Anthony

PY - 2014/1/1

Y1 - 2014/1/1

UR - http://www.scopus.com/inward/record.url?scp=84896123042&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84896123042&partnerID=8YFLogxK

U2 - 10.1002/humu.22527

DO - 10.1002/humu.22527

M3 - Article

AN - SCOPUS:84896123042

VL - 35

SP - 512

EP - 512

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 4

ER -