BCKDHB genotyping
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Contents
1
Indications
2
Notes
3
More general terms
4
Additional terms
5
References
Indications
evaluation of
maple syrup urine disease
Notes
common variants = R183P, G278S, E422X
More general terms
genotyping (allele testing)
Additional terms
branched-chain keto-acid dehydrogenase E1-beta; 2-oxoisovalerate dehydrogendase-beta; BCKDH E1-beta (BCKDHB)
References
↑
CPT :accession 81205
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