Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1α subunit

• 1 June 1993
• journal article
• research article
• Published by Oxford University Press (OUP) in Human Molecular Genetics
• Vol. 2  (6) , 805-807
• https://doi.org/10.1093/hmg/2.6.805

Abstract