Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria

Autor: Ulbrichova, Dana, Schneider-Yin, Xiaoye, Mamet, Rivka, Saudek, Vladimir, Martasek, Pavel, Minder, Elisabeth I., Schoenfeld, Nili
Zdroj: In Blood Cells, Molecules and Diseases March-April 2009 42(2):167-173
Databáze: ScienceDirect