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Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency.

par Cardozo, Alessandra K ;De Meirleir, Linda;Liebaers, Ingeborg ;Lissens, Willy
Référence Pediatric research, 48, 6, page (748-753)
Publication Publié, 2000-12

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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, Ingeborg; 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
MeSH keywords:	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 générale:	Journal Article
	Research Support, Non-U.S. Gov't
Langue:	Anglais
Identificateurs:	urn:issn:0031-3998
	info:pmid/11102541