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:
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
NATURE COMMUNICATIONS, 6.
Terjedelem: 9 p. -Azonosító: 7623.
ISSN 2041-1723
(2015)