A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome

Autor: Mory, Adi, Dagan, Efrat, Illi, Barbara, Duquesnoy, Philippe, Mordechai, Shikma, Shahor, Ishai, Romani, Sveva, Hawash-Moustafa, Nivin, Mandel, Hanna, Valente, Enza M., Amselem, Serge, Gershoni-Baruch, Ruth
Zdroj: In The American Journal of Human Genetics 6 April 2012 90(4):708-714
Databáze: ScienceDirect