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Literature citations Results

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

Magner M., Vinsova K., Tesarova M., Hajkova Z., Hansikova H., Wenchich L., Jesina P., Smolka V., Adam T., Vaneckova M. et al.

Prague Med Rep 112:18-28(2011) · Mapped (10)

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.

Honzik T., Tesarova M., Mayr J.A., Hansikova H., Jesina P., Bodamer O., Koch J., Magner M., Freisinger P., Huemer M. et al.

Arch. Dis. Child. 95:296-301(2010) · Mapped (2)

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.

Mayr J.A., Havlickova V., Zimmermann F., Magler I., Kaplanova V., Jesina P., Pecinova A., Nuskova H., Koch J., Sperl W. et al.

Hum. Mol. Genet. 19:3430-3439(2010) · UniProtKB (1)

GUG is an efficient initiation codon to translate the human mitochondrial ATP6 gene.

Dubot A., Godinot C., Dumur V., Sablonniere B., Stojkovic T., Cuisset J.M., Vojtiskova A., Pecina P., Jesina P., Houstek J.

Biochem. Biophys. Res. Commun. 313:687-693(2004) · UniProtKB (1)

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