Title: | Mutation analysis in mitochondrial fatty acid oxidation defects : exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship |
Journal : | Human mutation, 18 |
Authors: | Gregersen N ; Andresen BS ; Corydon MJ ; Corydon TJ ; Olsen RKJ ; Bolund L ; Bross P |
Material Type: | Article |
Publication Date: | 2001 |
Size: | p. 169-189 |
Languages: | English |
Keywords : | acyl-CoA dehydrogenase deficiency ; fatty acid beta-oxidation ; fatty acids ; genetic diagnosis ; genotype-phenotype correlation ; mitochondria ; tertiary structure of proteins |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=11524729&query_hl=12&itool=pubmed_docsum |