Search
AMPD1 gene mutation
Clinical significance:
- AMPD1 gene p.Gln12Ter & p.Pro48Leu
- AMPD1 gene mutations are the cause of AMP deaminase deficiency
Related
adenosine monophosphate deaminase-1 (AMP deaminase isoform M, myoadenylate deaminase, AMPD1)
General
gene mutation testing; gene mutation analysis
References
Loinc