Article (Scientific journals)
Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype.
Anghelescu, C.; Francou, B.; Cardas, R. et al.
2017In European Journal of Neurology, 24 (3), p. 15-e16
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Keywords :
GDAP1; MFN2; Charcot-Marie-Tooth; exome
Disciplines :
Neurology
Pediatrics
Author, co-author :
Anghelescu, C.
Francou, B.
Cardas, R.
Guiochon-Mantel, A.
Aubourg, P.
Servais, Laurent ;  Université de Liège - ULiège > Département des sciences cliniques > Neuropédiatrie
Gidaro, T.
Language :
English
Title :
Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype.
Publication date :
March 2017
Journal title :
European Journal of Neurology
ISSN :
1351-5101
eISSN :
1468-1331
Publisher :
Blackwell, Oxford, United Kingdom
Volume :
24
Issue :
3
Pages :
e15-e16
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 12 February 2018

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