PMID: 15492319

O'Connell BJ, Denis M, Genest J
Cellular physiology of cholesterol efflux in vascular endothelial cells.
Circulation. 2004 Nov 2;110(18):2881-8. Epub 2004 Oct 18., [PubMed]
Sentences
No. Mutations Sentence Comment
22 ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 15492319:22:167
status: NEW
view ABCA1 p.Cys1477Arg details
 Normal human skin fibroblasts were obtained by biopsy from a healthy human volunteer, and Tangier fibroblasts were from a patient with compound ABCA1 mutations (ABCA1 C1477R amino acid substitution and an ABCA1 IVS25af9;1 [G3C] mRNA splice site mutation). Login to comment 27 ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 15492319:27:167
status: NEW
view ABCA1 p.Cys1477Arg details
 Normal human skin fibroblasts were obtained by biopsy from a healthy human volunteer, and Tangier fibroblasts were from a patient with compound ABCA1 mutations (ABCA1 C1477R amino acid substitution and an ABCA1 IVS25ϩ1 [G3C] mRNA splice site mutation). Login to comment