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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)