Title: | Comprehensive mutation analysis for congenital muscular dystrophy : a clinical PCR-based enrichment and next-generation sequencing panel |
Journal : | PLoS ONE, 8, 1, e53083 |
Authors: | Valencia CA ; Ankala A ; Rhodenizer D ; Bhide S ; Littlejohn MR ; Keong LM ; Rutkowski A ; Sparks S ; Bonnemann C ; Hegde M |
Material Type: | Article |
Publication Date: | 2013 |
Size: | 11 p. |
Languages: | English |
Keywords : | candidate genes ; congenital muscular dystrophy ; diagnosis ; genetic analysis ; genetic heterogeneity ; genetic mutations ; genetics ; physiopathology ; sequencing ; skeletal muscle |
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=23326386 |
Pubmed / DOI : | DOI : 10.1371/journal.pone.0053083 |