Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene.

doi:10.1007/BF00217783

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Article

Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene.

Human genetics - 1 Jun 1993

Saint-Jore B, Loux N, Junien C, Boileau C

Abstract excerpt

We identified by polymerase chain reaction/single-strand conformation polymorphism analysis two unreported polymorphisms in the low density lipoprotein receptor gene, located in exons 11 and 15. The exon 15 sequence variation can also be readily detected since it abolishes an MspI site.

Topics

DNA Mutational Analysis
DNA, Single-Stranded
Genetic Variation
Humans
Hyperlipoproteinemia Type II
Nucleic Acid Conformation
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Receptors, LDL
Restriction Mapping

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