抄録
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 recognizes apolipoprotein E and is genetically linked with type 1 diabetes, these novel polymorphisms will be useful in genetic studies of hyperlipoproteinemia and diabetes. To our knowledge, this is the first report in the literature of sequence variants in the human LRP5 gene.
| 本文言語 | English |
|---|---|
| ページ（範囲） | 186 |
| ページ数 | 1 |
| ジャーナル | Human mutation |
| 巻 | 19 |
| 号 | 2 |
| DOI | |
| 出版ステータス | Published - 2002 2月 |
| 外部発表 | はい |
ASJC Scopus subject areas
- 遺伝学
- 遺伝学（臨床）
UN SDG
この成果は、次の持続可能な開発目標に貢献しています
