AGTXAdjutant General's Department of Texas
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The diagnosis is confirmed by DNA testing to identify specific mutations in AGTX in the case of Type 1 PH, or in GRHPR or HOGA1 in the case of Types 2 and 3 PH, respectively (Cochat et al., 2012; Edvardsson et al., 2013).
In some cases, pyridoxine responsiveness can be predicted by AGTX genotyping.
Primary hiperoxaluria type I:Diagnostic relevance of mutations and polimorfism in the alanine, glyoxylate aminotransferase gene (AGTX).