Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1 alpha subunit.

Hum Mol Genet

Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Victoria, Australia.

Published: June 1993

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http://dx.doi.org/10.1093/hmg/2.6.805DOI Listing

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