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What is the disease DBT?

Ethan Ward | 2023-06-10 01:50:56 | page views：1784
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Ethan Hall

Works at the International Renewable Energy Agency, Lives in Abu Dhabi, UAE.
Deletion in DBT gene is associated with maple syrup urine disease. 4 novel mutations in DBT gene resulting in intermittent maple syrup urine disease in 7 Norwegian patients; pathogenic effect of the mutations is depletion of cellular protein; intermittent form of MSUD appears to be due to residual R301C mutant protein.Apr 21, 2018
2023-06-17 01:50:56
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Oliver Jackson

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Deletion in DBT gene is associated with maple syrup urine disease. 4 novel mutations in DBT gene resulting in intermittent maple syrup urine disease in 7 Norwegian patients; pathogenic effect of the mutations is depletion of cellular protein; intermittent form of MSUD appears to be due to residual R301C mutant protein.Apr 21, 2018
DBT dihydrolipoamide branched chain transacylase E2 [ (human)]
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