Results 201 to 210 of about 3,705 (210)

Hydroxymethylbilane synthase (aka porphobilinogen deaminase): A novel metabolic tumor suppressor gene in hepatocellular carcinoma

Journal of Hepatology, 2022
Antonio Fontanellas, Matías A. Avila
openaire   +2 more sources

Acute intermittent porphyria – impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties

FEBS Journal, 2009
Matous Hrdinka, Vladimír Saudek, Pavel Martasek   +2 more
exaly  

Hydroxymethylbilane synthase

2007
openaire   +1 more source

Determination of the structure of selenomethionine-labelled hydroxymethylbilane synthase in its active form by multi-wavelength anomalous dispersion

Acta Crystallographica Section D: Biological Crystallography, 1999
John Helliwell
exaly  

Erythrocyte 5-Aminolaevulinic Acid Dehydrase Hydroxymethylbilane Synthase and Uroporphyrinogen Iii Synthase Activities in Alcoholics

Clinical Science, 1984
D.J. Wright, J.M. Hideout, C.K. Lim, T.J. Peters   +3 more
openaire   +1 more source

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

Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: Report of four novel mutations

Human Mutation, 2000
Elena Di Pierro, Maria Domenica Cappellini   +1 more
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 Martasek, Christopher C Marohnic
exaly  

Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: Evidence for an ancestral founder of the common G111R mutation

1999
Mari Rossetti, V E Parera, Robert Desnick   +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