Independent mutation of arginine(3500)→glutamine associated with familial defective apolipoprotein B-100

Familial defective apolipoprotein B-100 (FDB) is characterized by a decreased affinity of low density lipoprotein (LDL) to the LDL receptor resulting in a dominantly inherited increase of plasma LDL. It is postulated that FDB is caused by a G to A mutation at nucleotide 10,708 in exon 26 of the apoB...

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Bibliographic Details
Main Authors: G Rauh, H Schuster, CK Schewe, G Stratmann, C Keller, G Wolfram, N Zöllner
Format: Article
Language:English
Published: Elsevier 1993-05-01
Series:Journal of Lipid Research
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520397005