New method for detection of C34-T mutation in the AMPD1 gene causing myoadenylate deaminase deficiency.
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D000659:AMP Deaminase / Q000172:deficiency*; D001483:Base Sequence; D004247:DNA / Q000737:chemistry; D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D007527:Isoenzymes / Q000172:deficiency*; D008969:Molecular Sequence Data; D009132:Muscles / Q000201:enzymology*; D009154:Mutation
D007527:Isoenzymes; D004247:DNA; D000659:AMP Deaminase