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An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.
A mutation in the mitochondrial targeting sequence was characterized in a male patient with X chromosome-linked pyruvate dehydrogenase E1 alpha deficiency. The mutation was a base substitution of G by C at nucleotide 134 in the mitochondrial targeting sequence of the PDHA1 gene, resulting in an argi...
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| Auteurs principaux: | , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
1995
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1801496/ https://ncbi.nlm.nih.gov/pubmed/7573035 |
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