Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

Thiffault Isabelle, Wolf Nicole I., Forget Diane, Sztriha László, Zimmermann Aliz, Máté Adrienn, Goizet Cyril, Fung Eva, Fribourg Sébastien, Vanderver Adeline, Simons Cas, Taft Ryan J., Yates John R., Coulombe Benoit, Bernard Genèvive
2015