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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

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New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk

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Russian Journal of Genetics, Vol. 49, Iss. 6, 2013-06 ,pp. : 673-676

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Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor α gene and their relationship to bone mass variation in postmenopausal Italian women

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Sex-dependent association of a common low-density lipoprotein receptor polymorphism with RNA splicing efficiency in the brain and Alzheimers disease

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