Results 171 to 174 of about 164,160 (174)

Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria

Clinical Genetics, 2006
X, Schneider-Yin, U, Szlendak, A I, Lipniacka, E I, Minder, A, Gregor   +4 more
openaire   +2 more sources

Acute intermittent porphyria: theexpression of mutant hydroxymethylbilane synthase

Molecular and Cellular Probes, 1997
Michael Moore, W G Lanyon, J M Connor
exaly  

Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria

Molecular Genetics and Metabolism, 2008
Pavel Martásek, Christopher C Marohnic, Nili Schoenfeld   +2 more
exaly  

Determination of erythrocyte hydroxymethylbilane synthase activity and its application for study of acute intermittent porphyria.

Taiwan yi xue hui za zhi. Journal of the Formosan Medical Association, 1989
F Y, Lee, K J, Hsiao, Y T, Tsai, S D, Lee, S J, Wu, H S, Jeng   +5 more
openaire   +1 more source