Titre :
  • Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency.
Auteur : Cardozo, Alessandra K ; De Meirleir, Linda ; Liebaers, Inge ; Lissens, Willy
Informations sur la publication : Pediatric research, 48, 6, (page 748-753)
Statut de publication : Publié, 2000-12
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés MeSH : Amino Acid Substitution
Animals
COS Cells
Cercopithecus aethiops
DNA Mutational Analysis
Exons -- genetics
Humans
Mutagenesis, Site-Directed
Nucleic Acid Conformation
Pyruvate Dehydrogenase (Lipoamide)
Pyruvate Dehydrogenase Complex -- genetics
Pyruvate Dehydrogenase Complex Deficiency Disease -- enzymology
Pyruvate Dehydrogenase Complex Deficiency Disease -- genetics
RNA Precursors -- chemistry
RNA Precursors -- genetics
RNA Splicing -- genetics
Recombinant Fusion Proteins -- genetics
Reverse Transcriptase Polymerase Chain Reaction
Spliceosomes -- metabolism
Transfection
X Chromosome -- genetics
Note : Journal Article
Research Support, Non-U.S. Gov't
Langue :
  • Anglais
Identificateurs : urn:issn:0031-3998 
info:pmid/11102541