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2010 | 2 |
2011 | 1 |
2012 | 1 |
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A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
Hum Mutat. 2012 Jan;33(1):244-53. doi: 10.1002/humu.21635. Epub 2011 Nov 9.
Hum Mutat. 2012.
PMID: 22009580
Free PMC article.
A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.
Antonellis A, Dennis MY, Burzynski G, Huynh J, Maduro V, Hodonsky CJ, Khajavi M, Szigeti K, Mukkamala S, Bessling SL, Pavan WJ, McCallion AS, Lupski JR, Green ED; NISC Comparative Sequencing Program.
Antonellis A, et al.
PLoS One. 2010 Dec 16;5(12):e14346. doi: 10.1371/journal.pone.0014346.
PLoS One. 2010.
PMID: 21179557
Free PMC article.
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Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC; NISC Comparative Sequencing Program; Biesecker LG, Wilson TE, Ionasescu V, Nicholson G, Searby C, Talbot K, Vance JM, Züchner S, Szigeti K, Lupski JR, Hou YM, Green ED, Antonellis A.
McLaughlin HM, et al.
Am J Hum Genet. 2010 Oct 8;87(4):560-6. doi: 10.1016/j.ajhg.2010.09.008.
Am J Hum Genet. 2010.
PMID: 20920668
Free PMC article.
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