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Article

Nonsense‐mediated decay of human LDL receptor mRNA

1 Jan 2009

Abstract excerpt

OBJECTIVE: The objective of this project was to determine whether nonsense mutation in the low density lipoprotein receptor (LDLR) induces nonsense-mediated mRNA decay (NMD). MATERIAL AND METHODS: Four known nonsense mutations (W23X, S78X, E207X and W541X) in the LDLR gene, which are found in Norwegian familial hypercholesterolaemia (FH) patients, were investigated. Epstein-Barr virus (EBV) transformed...

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PMID: 19148831
DOI: 10.1080/00365510802707163

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