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

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

Publisher： Oxford University Press

ISSN： 1460-2083

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

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