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Structure of the gene encoding the entire mature E1α subunit of human branched-chain α-keto acid dehydrogenase complex

✍ Scribed by Nahid Dariush; Charles W. Fisher; Rody P. Cox; David T. Chuang


Book ID
115925026
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
502 KB
Volume
284
Category
Article
ISSN
0014-5793

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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