Titre : | Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2 |
Revue : | Neuro-degenerative diseases |
Auteurs : | Bian X, Auteur ; Lin P ; Li J ; Long F ; Duan R ; Yuan Q ; Li Y ; Gao F ; Gao S ; Wei S ; Li X ; Sun W ; Gong Y ; Yan C ; Liu Q |
Type de document : | Article |
Editeur : | Switzerland, 2018 |
Pages : | p 74 |
Langues: | Anglais |
Mots-clés: | Charcot-Marie-Tooth disease;neurofilament heavy polypeptide gene;whole-exome sequencing;whole-genome linkage analysis;Zebrafish model |
Pubmed / DOI : | Pubmed : 29587262 / DOI : 10.1159/000487754 |
En ligne : | http://www.ncbi.nlm.nih.gov/pubmed/29587262 |