Titre : | Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy |
Revue : | Neuromuscular disorders : NMD |
Auteurs : | Shi J ; Zhao F ; Pang X ; Huang S ; Wang J ; Chang X ; Zhang J ; Liu Y ; Guo J ; Zhang W |
Type de document : | Article |
Editeur : | England, 18/11/2020 |
Langues: | Anglais |
Mots-clés: | Charcot–Marie–Tooth disease;Hereditary motor and sensory neuropathy with agenesis of the corpus callosum;KCC3 protein;SLC12A6 gene;Whole-exome sequencing; |
Pubmed / DOI : | Pubmed : 33323309 / DOI : 10.1016/j.nmd.2020.11.002 |
N° Profil MNM : | 2020122 |
En ligne : | http://www.ncbi.nlm.nih.gov/pubmed/33323309 |