Article
Influence of an asparagine to lysine mutation at amino acid 3516 of apolipoprotein B on low-density lipoprotein receptor binding.
Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2002
Gaffney Dairena, Pullinger Clive R, O'Reilly Denis St J, Hoffs Michael S, Cameron Isobel, Vass J Keith, Kulkarni Medha V, Kane John P, Schumaker Verne N, Watts Gerald F, Packard Chris J
Abstract excerpt
BACKGROUND: Three mutations in the apolipoprotein B (apoB) gene have previously been established as important causes of impaired receptor binding of LDL and, hence, Familial Defective Apolipoprotein B 100 (FDB). Previously, undescribed mutations were sought. METHODS: Using denaturing gradient gel electrophoresis for mutation detection, DNA from 1852 new patients was examined. RESULTS: A previously undiscovered...
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