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...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
1993-05-01
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Series: | Journal of Lipid Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S0022227520397005 |