Literature citations
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.
Latour P.; Thauvin-Robinet C.; Baudelet-Mery C.; Soichot P.; Cusin V.; Faivre L.; Locatelli M.C.; Mayencon M.; Sarcey A.; Broussolle E.; Camu W.; David A.; Rousson R.;
Am. J. Hum. Genet. 86:77-82(2010)
Cited for: VARIANT CMT2N HIS-329;
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
McLaughlin H.M.; Sakaguchi R.; Giblin W.; Wilson T.E.; Biesecker L.; Lupski J.R.; Talbot K.; Vance J.M.; Zuchner S.; Lee Y.C.; Kennerson M.; Hou Y.M.; Nicholson G.; Antonellis A.;
Hum. Mutat. 33:244-253(2012)
Cited for: VARIANT CMT2N HIS-329; CHARACTERIZATION OF VARIANT CMT2N HIS-329;
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