Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
1 to 4 of 4  Show

Literature citations Results

Citation
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)

1 to 4 of 4  Show
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again