A G-1-to-A acceptor splice site LDLR mutant allele leads to reduced relative transcript levels in patients with heterozygous familial hypercholesterolemia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1996.tb03282.x/fullpdf
Reference21 articles.
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2. Detection of the apoB-3500 mutation by gene amplification and cleavage with Mspl;Hansen;J Lipid Res,1991
3. Avall polymorphism in the human LDL receptor gene;Hobbs;Nucleic Acids Res,1987
4. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia;Hobbs;Hum Mutat,1992
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