AMPD1 gene mutation

Clinical significance

• AMPD1 gene p.Gln12Ter & p.Pro48Leu
• AMPD1 gene mutations are the cause of AMP deaminase deficiency

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• adenosine monophosphate deaminase-1 (AMP deaminase isoform M, myoadenylate deaminase, AMPD1)