Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Autor: Taanman, Jan-Willem, Daras, Mariza, Albrecht, Juliane, Davie, Charles A., Mallam, Elizabeth A., Muddle, John R., Weatherall, Mark, Warner, Thomas T., Schapira, Anthony H.V., Ginsberg, Lionel
Zdroj: In Neuromuscular Disorders 2009 19(2):151-154
Databáze: ScienceDirect