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2 Possible Causes for Mutation in the Adenosine Monophosphate Deaminase 2 Gene

  • Myoadenylate Deaminase Deficiency

    Tests performed in IVAMI: in IVAMI perform detection of mutations associated with adenosine deaminase deficiency monophosphate (AMP), by complete PCR amplification of the[ivami.com] We recommend starting the study to detect the most common in exon 2 (Q12X) mutation, and if not present, perform the complete sequencing of the remaining exons.[ivami.com] […] exons of the gene AMPD1, and subsequent sequencing.[ivami.com]

  • Adenosine Monophosphate Deaminase Deficiency

    Tests performed in IVAMI: in IVAMI perform detection of mutations associated with adenosine deaminase deficiency monophosphate (AMP), by complete PCR amplification of the[ivami.com] We recommend starting the study to detect the most common in exon 2 (Q12X) mutation, and if not present, perform the complete sequencing of the remaining exons.[ivami.com] […] exons of the gene AMPD1, and subsequent sequencing.[ivami.com]

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