Identification of a novel R21X mutation
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M. Luís Cardoso; Esmeralda Martins; Rui Vasconcelos; Laura Vilarinho; Jorge Roch
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Article
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1999
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John Wiley and Sons
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English
⚖ 121 KB
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Argininemia is a rare autossomal recessive disorder caused by deficiency in the cytosolic liver-type arginase enzyme (L-arginine urea-hydrolase; E.C. 3.5.3.1). In order to investigate the molecular basis for argininemia in four unrelated Portuguese patients (two from northern Portugal and two from M