Genetic diagnosis of familial hypercholesterolaemia: a mutation and a rare non-pathogenic amino acid variant in the same family

Autor: Naoumova, Rossitza P, Neuwirth, Clare, Pottinger, Bruce, Whittal, Ros, Humphries, Stephen E, Soutar, Anne K
Zdroj: In Atherosclerosis 2004 174(1):67-71
Databáze: ScienceDirect