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A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34.

Biochemical and biophysical research communications - 31 Jan 1991

Fisher C W, Lau K S, Fisher C R, Wynn R M, Cox R P, Chuang D T

Abstract excerpt

We have amplified the cDNA for the transacylase (E2) subunit of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex from a thiamine-responsive MSUD cell line (WG-34) by the polymerase chain reaction. Sequencing of the amplified WG-34 cDNA showed a 17-bp insertion (AAATACCTTGTTACCAG) apparently resulting from an aberrant splicing of the E2 gene, and a missense (T----G) mutation that changes Phe215 to...

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PMID: 1847055
DOI: 10.1016/0006-291x(91)91489-y

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