https://www.selleckchem.com/products/nsc16168.html
BACKGROUND Little data exist on the pathogenic mutations of LDL receptor in Japanese familial hypercholesterolemia (FH). OBJECTIVE We aimed to catalog the pathogenic mutations of LDL receptor gene in the 2 major Japanese FH-care centers (Kanazawa University and National Cerebral and Cardiovascular Center Research Institute), where genetic testing of FH has been performed centrally on requests from institutes all over Japan during more than past 2 decades. METHODS 796 FH subjects from 472 families who had nonsynonymous mutations in LDL
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