Article
Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene.
Human mutation - 1 Feb 2002
Okubo Minoru, Horinishi Asako, Kim Dong-Ho, Yamamoto Tokuo T, Murase Toshio
Abstract excerpt
We identified seven novel polymorphisms in the human low density lipoprotein receptor related protein 5 (LRP5) gene. Two of them are predicted to replace amino acid in LRP5 protein (c.314A>G: Q89R and c.4037T>C: V1330A), whereas three are silent mutations in the coding region (c.2268T>C: N740N, c.3405A>G: V1119V, and c.4137C>T: D1363D) and two are polymorphisms in introns (IVS10+6T>C and IVS17-30G>A). Since LRP5...
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