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Analysis of the promoters and 5′-UTR of mouse Cd59 genes, and of their functional activity in erythrocytes

✍ Scribed by Qin, X; Ferris, S; Hu, W; Guo, F; Ziegeler, G; Halperin, J A


Book ID
110037802
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
248 KB
Volume
7
Category
Article
ISSN
1466-4879

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Familial hypercholesterolemia (FH) is a dominant disorder due to mutations in the LDLR gene. Several mutations in the LDLR promoter are associated with FH. Screening of 3,705 Spanish FH patients identified 10 variants in the promoter and 5 0 UTR. Here, we analyse the functionality of six newly ident