Quantitative effects of common genetic variations in the 3′UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study

By Muallem Hind   North Kari   Kakoki Masao   Wojczynski Mary   Li Xia   Grove Megan   Boerwinkle Eric   Wilhelmsen Kirk   Heiss Gerardo   Maeda Nobuyo  

Human Genetics, Vol. 121, Iss. 3-4, 2007-05 ,pp. : 421-431

Springer Publishing Company

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Genetic Variation at a Splicing Branch Point in Intron 9 of the Low Density Lipoprotein (LDL)-Receptor Gene: A Rare Mutation that Disrupts mRNA Splicing in a Patient with Familial Hypercholesterolaemia and a Common Polymorphism

By Webb Julie C.   Patel Dilip D.   Shoulders Carol C.   Knight Brian L.   Soutar Anne K.  

Human Molecular Genetics, Vol. 5, Iss. 9, 1996-01 ,pp. : 1325-1331

Oxford University Press

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A gene fusion method to screen for regulatory effects on gene expression: application to the LDL receptor

By Li K.   Ramirez M.A.   Rose E.   Beaudet A.L.  

Human Molecular Genetics, Vol. 11, Iss. 26, 2002-12 ,pp. : 3257-3265

Oxford University Press

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Interaction between the ligand-binding domain of the LDL receptor and the C-terminal domain of PCSK9 is required for PCSK9 to remain bound to the LDL receptor during endosomal acidification

By Tveten Kristian   Holla Øystein L.   Cameron Jamie   Strøm Thea Bismo   Berge Knut Erik   Laerdahl Jon K.   Leren Trond P.  

Human Molecular Genetics, Vol. 21, Iss. 6, 2012-03 ,pp. : 1402-1409

Oxford University Press

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Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms

By Yeo Giles S.H.  

Human Molecular Genetics, Vol. 12, Iss. 5, 2003-03 ,pp. : 561-574

Oxford University Press

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