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.

Source:http://linkedlifedata.com/resource/pubmed/id/1847055

Biochem. Biophys. Res. Commun. 1991 Jan 31 174 2 804-9

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PMID
1847055