Title: | Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease |
Journal : | American journal of human genetics (The), 92, 3 |
Authors: | Soong BW ; Huang YH ; Tsai PC ; Huang CC ; Pan HC ; Lu YC ; Chien HJ ; Liu TT ; Chang MH ; Lin KP ; Tu PH ; Kao LS ; Lee YC |
Material Type: | Article |
Publication Date: | 2013 |
Size: | p. 422-430 |
Languages: | English |
Keywords : | autosomal dominant intermediate forms of CMT ; family trees ; gène GNB4 ; genetic mutations ; guanine ; muscle histopathology ; sequencing |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=23434117 |
Pubmed / DOI : | DOI : 10.1016/j.ajhg.2013.01.014 |