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Results 1 - 2 of 2 for Pyruvate dehydrogenase "E1-beta" deficiency
  1. ... PDHB gene are a very rare cause of pyruvate dehydrogenase deficiency. This ... acids) in the E1 beta protein, resulting in an abnormal E1 beta protein ...
  2. ... females.Mutations in the PDHA1 gene associated with pyruvate dehydrogenase ... not be able to interact with E1 beta to form the E1 enzyme or with other ...