Mild Phenotype in a Male with Pyruvate Dehydrogenase...

Neuropediatrics 2013 / 4 Vol. 45; Iss. 1

Mild Phenotype in a Male with Pyruvate Dehydrogenase Complex Deficiency Associated with Novel Hemizygous In-Frame Duplication of the E1α Subunit Gene (PDHA1)

Steller, J., Gargus, J., Gibbs, L., Hasso, A., Kimonis, V.
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Volume:
45
Language:
english
Journal:
Neuropediatrics
DOI:
10.1055/s-0033-1341601
Date:
April, 2013
File:
PDF, 149 KB
english, 2013
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