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Similar splice-site mutations of the ATP7A gene lead to different phenotypes: Classical Menkes disease or occipital horn syndrome

4, column 5) demonstrated that 20 intracellular metabolites were at higher concentrations in the gdh3 / gdh3 mutant cultured in the arginine medium

El-Bahrawy, Metabonomic analysis of ovarian tumour cyst fluid by proton nuclear magnetic resonance spectroscopy
