Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.


Kara B., Köroğlu Ç., Peltonen K., Steinberg R., Maraş G., Hölttä-Vuori M., ...More

European journal of human genetics : EJHG, vol.25, pp.315-323, 2017 (SCI-Expanded) identifier identifier identifier