Article
A modified conformation sensitive gel electrophoresis (CSGE) method for rapid and accurate detection of low density lipoprotein (LDL) receptor gene mutations in Familial Hypercholesterolemia.
Clinical biochemistry - 1 Jun 2005
Fard-Esfahani Pejman, Khatami Shohreh, Zeinali Cyrus, Taghikhani Mohammad, Allahyari Mojgan
Abstract excerpt
OBJECTIVES: A conformation sensitive gel electrophoresis (CSGE) method was modified for detection of LDL receptor gene mutations. DESIGN AND METHODS: Usage of a temperature gradient against running time was tested with 33 identified mutations in the LDL receptor gene. Most of the mutations were missense. RESULTS: 32 mutations were detected using this method (sensitivity: 97%). The duration required for running...
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