Title: | Mutation Update for GNE Gene Variants Associated with GNE Myopathy |
Journal : | Human mutation, 35, 8 |
Authors: | Celeste FV ; Vilboux T ; Ciccone C ; de Dios JK ; Malicdan MC ; Leoyklang P ; McKew JC ; Gahl WA ; Carrillo-Carrasco N ; Huizing M |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 915 |
Languages: | English |
Keywords : | distal myopathy with rimmed vacuoles ; genetic deletions ; genetic mutations ; genotype-phenotype correlation ; GNE gene ; GNE myopathy ; nonsense mutations ; sialic acid |
Keywords: | DMRV;GNE;HIBM;adult onset muscular dystrophy;distal myopathy with rimmed vacuoles;hereditary inclusion body myopathy; |
Pubmed / DOI : | DOI : 10.1002/humu.22583 / Pubmed : 24796702 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/24796702 |
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