Open AccessSingle step PCR for the identification of low density lipoprotein receptor (LDL-R) gene mutations
Author(s) -
Samia Perwaiz Khan
Publication year - 2014
Publication title -
pakistan journal of medical sciences
Language(s) - English
Resource type - Journals
eISSN - 1682-024X
pISSN - 1681-715X
DOI - 10.12669/pjms.304.4711
Subject(s) - medicine , ldl receptor , gene , identification (biology) , genetics , lrp1b , polymerase chain reaction , lipoprotein , computational biology , cholesterol , biology , botany
This study was conducted to determine the common mutation of low density lipoprotein receptor in patients with familial hypercholesterolemia (FH) in our population and identify the different point mutation in the LDL-receptor gene. The main aim of this study was to reduce the cost of PCR without extracting DNA and do the diagnosis at single step.
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