PMC Links for Nucleotide (Select 359338968) - PMC

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Items: 3

Select item 32134031.

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

Martine Tétreault, Karine Choquet, Simona Orcesi, Davide Tonduti, Umberto Balottin, Martin Teichmann, Sébastien Fribourg, Raphael Schiffmann, Bernard Brais, Adeline Vanderver, Geneviève Bernard

Am J Hum Genet. 2011 Nov 11; 89(5): 652–655. doi: 10.1016/j.ajhg.2011.10.006

PMCID:: PMC3213403

Abstract Article PDF–526K

Select item 32133922.

Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

Hirotomo Saitsu, Hitoshi Osaka, Masayuki Sasaki, Jun-ichi Takanashi, Keisuke Hamada, Akio Yamashita, Hidehiro Shibayama, Masaaki Shiina, Yukiko Kondo, Kiyomi Nishiyama, Yoshinori Tsurusaki, Noriko Miyake, Hiroshi Doi, Kazuhiro Ogata, Ken Inoue, Naomichi Matsumoto

Am J Hum Genet. 2011 Nov 11; 89(5): 644–651. doi: 10.1016/j.ajhg.2011.10.003