A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
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Wiley-Liss Inc.
2014
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| _version_ | 1826293924518428672 |
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| author | Mclaughlin, H Sakaguchi, R Giblin, W Wilson, T Biesecker, L Lupski, JR Talbot, K Vance, J Züchner, S Lee, Y Kennerson, M Hou, Y Nicholson, G Antonellis, A |
| author_facet | Mclaughlin, H Sakaguchi, R Giblin, W Wilson, T Biesecker, L Lupski, JR Talbot, K Vance, J Züchner, S Lee, Y Kennerson, M Hou, Y Nicholson, G Antonellis, A |
| author_sort | Mclaughlin, H |
| collection | OXFORD |
| description | |
| first_indexed | 2024-03-07T03:37:41Z |
| format | Journal article |
| id | oxford-uuid:bcd5236e-ebd0-4d39-a4e9-e896ad5306b0 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T03:37:41Z |
| publishDate | 2014 |
| publisher | Wiley-Liss Inc. |
| record_format | dspace |
| spelling | oxford-uuid:bcd5236e-ebd0-4d39-a4e9-e896ad5306b02022-03-27T05:27:27ZA Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:bcd5236e-ebd0-4d39-a4e9-e896ad5306b0EnglishSymplectic Elements at OxfordWiley-Liss Inc.2014Mclaughlin, HSakaguchi, RGiblin, WWilson, TBiesecker, LLupski, JRTalbot, KVance, JZüchner, SLee, YKennerson, MHou, YNicholson, GAntonellis, A |
| spellingShingle | Mclaughlin, H Sakaguchi, R Giblin, W Wilson, T Biesecker, L Lupski, JR Talbot, K Vance, J Züchner, S Lee, Y Kennerson, M Hou, Y Nicholson, G Antonellis, A A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) |
| title | A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) |
| title_full | A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) |
| title_fullStr | A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) |
| title_full_unstemmed | A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) |
| title_short | A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) |
| title_sort | recurrent loss of function alanyl trna synthetase aars mutation in patients with charcot marie tooth disease type 2n cmt2n |
| work_keys_str_mv | AT mclaughlinh arecurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT sakaguchir arecurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT giblinw arecurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT wilsont arecurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT bieseckerl arecurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT lupskijr arecurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT talbotk arecurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT vancej arecurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT zuchners arecurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT leey arecurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT kennersonm arecurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT houy arecurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT nicholsong arecurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT antonellisa arecurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT mclaughlinh recurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT sakaguchir recurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT giblinw recurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT wilsont recurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT bieseckerl recurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT lupskijr recurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT talbotk recurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT vancej recurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT zuchners recurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT leey recurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT kennersonm recurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT houy recurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT nicholsong recurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n AT antonellisa recurrentlossoffunctionalanyltrnasynthetaseaarsmutationinpatientswithcharcotmarietoothdiseasetype2ncmt2n |