Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients

Autor: Van Eijsden, Rudy G.E., Gerards, Mike, Eijssen, Lars M.T., Hendrickx, Alexandra T.M., Jongbloed, Roselie J.E., Wokke, John H.J., Hintzen, Rogier Q., Rubio-Gozalbo, Maria E., De Coo, Irenaeus F.M., Briem, Egill, Tiranti, Valeria, Smeets, Hubert J.M.
Zdroj: In Genetics in Medicine October 2006 8(10):620-627
Databáze: ScienceDirect