Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency

Background: Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea metabolism that can lead to hyperammonemic crises and orotic aciduria. To date, a total of 341 causative mutations within the OTC gene have been described. However, in about 20% of the patients with enzym...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Molecular genetics and metabolism 2008-07, Vol.94 (3), p.292-297
Hauptverfasser:	Engel, Katharina, Nuoffer, Jean-Marc, Mühlhausen, Chris, Klaus, Vera, Largiadèr, Carlo R., Tsiakas, Konstantinos, Santer, René, Wermuth, Bendicht, Häberle, Johannes
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Child, Preschool DNA Mutational Analysis Female Genetic Testing - methods Humans Infant Infant, Newborn Liver biopsy Male mRNA analysis Neonatal Screening - methods Ornithine Carbamoyltransferase - analysis Ornithine Carbamoyltransferase - genetics Ornithine Carbamoyltransferase Deficiency Disease - diagnosis Ornithine Carbamoyltransferase Deficiency Disease - genetics Ornithine transcarbamylase RNA, Messenger - analysis Sensitivity and Specificity Urea cycle defect
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!