Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene
Autor: | Dey, Runu, Aral, Bernard, Abitbol, Marc, Marsac, Cecile |
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Zdroj: | In Molecular Genetics and Metabolism 2002 76(4):344-347 |
Databáze: | ScienceDirect |
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