Results 161 to 166 of about 295,934 (166)

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

Human Mutation, 2000
Maria Domenica Cappellini, Elena Di Pierro, S Fargion   +2 more
exaly  

Use of a universal hydroxymethylbilane synthase (HMBS)-based PCR as an endogenous internal control and to enable typing of mammalian DNAs

Applied Microbiology and Biotechnology, 2014
Lanjing Wei, P. Kelly, Jilei Zhang, Yi Yang, Xiaofeng Zheng, J. Tao, Zhenwen Zhang, Chengming Wang   +7 more
semanticscholar   +1 more source

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, Elisabeth Minder, Christopher C Marohnić   +2 more
exaly  

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

1999
Victoria Estela Parera
exaly  

One ring closer to a closure: the crystal structure of the ES 3 hydroxymethylbilane synthase intermediate

FEBS Journal
Hélène J Bustad, Janne Jänis, Aurora Martinez   +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