Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort

Familial hypercholesterolaemia (FH) is a common inherited disorder, associated with premature vascular disease. FH may be caused by many different mutations in the low density lipoprotein receptor (LDLR) gene, about 700 mutations have been described, most of which occur rarely and often only in sing...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Human mutation 2002-03, Vol.19 (3), p.311-311
Hauptverfasser: Bunn, Caroline F., Lintott, Caroline J., Scott, Russell S., George, Peter M.
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!