Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells
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| Description | scientific article published on 22 June 2016 |
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author: Ana Gaspar Hildeberto Correia Maria João Silva Madalena Barroso Isabel Rivera Isabel Tavares de Almeida |
| Publication date | June 22, 2016 |
| Language | English |
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