Title: | Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping |
Journal : | Human genetics, 118 |
Authors: | Madsen PP ; Kibaek M ; Roca X ; Sachidanandam R ; Krainer AR ; Christensen E ; Steiner RD ; Gibson KM ; Corydon TJ ; Knudsen I ; Wanders RJA ; Ruiter JPN ; Gregersen N ; Andresen BS |
Material Type: | Article |
Publication Date: | 2006 |
Size: | p. 680-690 |
Languages: | English |
Keywords : | ACADSB gene ; acyl-CoA dehydrogenase deficiency ; blood ; carnitine ; case studies ; cell cultures ; enzyme activity ; exon skipping ; fibroblasts ; genetic mutations ; leucine ; mitochondria ; molecular genetics |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=16317551&query_hl=1&itool=pubmed_docsum |