Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency

Autor: Albrecht, Christiane, Baynes, Kevin, Sardini, Alessandro, Schepelmann, Silke, Eden, Emily R, Davies, Simon W, Higgins, Christopher F, Feher, Michael D, Owen, James S, Soutar, Anne K *
Zdroj: In BBA - Molecular Basis of Disease 2004 1689(1):47-57
Databáze: ScienceDirect