A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)-Reference-Cited by-同舟云学术

A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

Published:2011-11-09 Issue:1 Volume:33 Page:244-253
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

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,

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21635/fullpdf

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3. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons;Antonellis;J Neurosci,2006

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