A Recurrent loss-of-function alanyl-tRNA synthetase (AARS )...

Human Mutation 2012 Vol. 33; Iss. 1

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, NIH Intramural Sequencing Center, Thomas E. Wilson, Leslie Biesecker, James R. Lupski, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Yi-Chung
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Volume:
33
Year:
2012
Language:
english
Pages:
10
DOI:
10.1002/humu.21635
File:
PDF, 426 KB
english, 2012
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