Article
Two novel mutations in exon 3 and 4 of low density lipoprotein (LDL) receptor gene in patients with heterozygous familial hypercholesterolemia.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 Jul 2011
Khan Samia Perwaiz, Ghani Rubina, Ahmed Khwaja Zafar, Yaqoob Zia
Abstract excerpt
OBJECTIVE: To determine the common mutation of low density lipoprotein receptor in hypercholesterolemia patients requiring screening for heterozygous familial hypercholesterolemia (HeFH) in Karachi. STUDY DESIGN: Case-series. PLACE AND DURATION OF STUDY: Dr. Ziauddin Hospital Laboratory and Dr. Rubina Ghani's Pathological and Molecular Laboratories, Karachi, for the PCR bench work from June 2008 to October 2009....
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