Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese

Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese

DNA screening for LDL receptor mutations was performed in 170 unrelated hyperlipidemic Chinese patients and two clinically diagnosed familial hypercholesterolemia patients. Two deletions (Del e3-5 and Del e6-8), eight point mutations (W-18X, D69N, R94H, E207K, C308Y, I402T, A410T, and A696G), and tw...

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Bibliographic Details
Main Authors: Jui-Hung Chang, Ju-Pin Pan, Der-Yan Tai, Ai-Chun Huang, Pi-Hung Li, Hui-Ling Ho, Hui-Ling Hsieh, Shiu-Ching Chou, Wen-Lang Lin, Eric Lo, Ching-Yu Chang, Jerming Tseng, Ming-Tsan Su, Guey-Jen Lee-Chen
Format: Article
Language:English
Published: Elsevier 2003-10-01
Series:Journal of Lipid Research
Subjects:
low density lipoprotein receptor mutation
cDNA expression
haplotype analysis
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520337020

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http://www.sciencedirect.com/science/article/pii/S0022227520337020

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