Search
BCKDHB genotyping
Indications:
- evaluation of maple syrup urine disease
Notes:
- common variants = R183P, G278S, E422X
Related
branched-chain keto-acid dehydrogenase E1-beta; 2-oxoisovalerate dehydrogendase-beta; BCKDH E1-beta (BCKDHB)
General
genotyping (allele testing)
References
CPT :accession 81205