Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

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Published in Am J Hum Genet on March 01, 1995

Authors

K Chun1, N MacKay, R Petrova-Benedict, A Federico, A Fois, D E Cole, E Robertson, B H Robinson

Author Affiliations

1: Department of Paediatrics, University of Toronto, Ontario, Canada.

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