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Two new mutations in the human E1β subunit of branched chain α-ketoacid dehydrogenase associated with maple syrup urine disease

✍ Scribed by Beth B McConnell; Brett Burkholder; Dean J Danner


Book ID
117618240
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
325 KB
Volume
1361
Category
Article
ISSN
0925-4439

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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