Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
Spelbrink JN., Li F-Y., Tiranti V., Nikali K., Yuan Q-P., Tariq M., Wanrooij S., Garrido N., Comi G., Morandi L., Santoro L., Toscano A., Fabrizi G-M., Somer H., Croxen R., Beeson D., Poulton J., Suomalainen A., Jacobs HT., Zeviani M., Larsson C.