A nonsense mutation (R242X) in the branc
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Jeffrey Chinsky; Melissa Appel; Shlomo Almashanu; Paul Costeas; Nicholas Ambulos
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Article
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1998
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John Wiley and Sons
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English
⚖ 136 KB
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Mutation analysis of DNA from cultured amniocytes with absent branched-chain -ketoacid dehydrogenase activity revealed a C to T transition producing a nonsense mutation (R242X) in exon 7 of the gene encoding the E1 subunit of this multienzyme complex (BCKDHA). This pregnancy occured in a large consa