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BCKDHB gene mutation
Clinical significance:
- BCKDHB gene mutation are the cause of maple syrup urine disease type 1B
Related
branched-chain keto-acid dehydrogenase E1-beta; 2-oxoisovalerate dehydrogendase-beta; BCKDH E1-beta (BCKDHB)
General
gene mutation testing; gene mutation analysis
References
Loinc