Molecular and Enzymatic Characterization of a Unique Carnitine Palmitoyltransferase 1A Mutation in the Hutterite Community

Hepatic carnitine palmitoyltransferase 1 (CPT1A) deficiency is a rare disorder of mitochondrial fatty acid oxidation inherited as an autosomal recessive trait. Symptomatology comprises attacks of hypoketotic hypoglycemia with risk of sudden death or neurological sequelae. Only one CPT1A mutation has...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Molecular genetics and metabolism 2001-05, Vol.73 (1), p.46-54
Hauptverfasser:	Prip-Buus, Carina, Thuillier, Laure, Abadi, Nourredine, Prasad, Chitra, Dilling, Louise, Klasing, Juliet, Demaugre, France, Greenberg, Cheryl R., Haworth, James C., Droin, Véronique, Kadhom, Noman, Gobin, Stéphanie, Kamoun, Pierre, Girard, Jean, Bonnefont, Jean-Paul
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Base Sequence Carnitine O-Palmitoyltransferase - genetics Carnitine O-Palmitoyltransferase - metabolism Cells, Cultured DNA Mutational Analysis DNA, Complementary - chemistry DNA, Complementary - genetics Ethnic Groups - genetics Family Health Female Humans Immunoblotting Infant Male Molecular Sequence Data Mutation Pedigree Point Mutation Saccharomyces cerevisiae - genetics Sequence Homology, Amino Acid Sequence Homology, Nucleic Acid
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!