Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A

Bulent Kara, Cigdem Koroglu, Karita Peltonen, Ruchama C. Steinberg, Hulya Maras Genc, Maarit Holtta-Vuori, Ayse Guven, Kristiina Kanerva, Tugba Kotil, Seyhun Solakoglu, You Zhou, Vesa M. Olkkonen, Elina Ikonen, Marikki Laiho, Aslihan Tolun

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalEuropean Journal of Human Genetics
Volume25
Issue number3
Pages (from-to)315-323
Number of pages9
ISSN1018-4813
DOIs
Publication statusPublished - Feb 2017
MoE publication typeA1 Journal article-refereed

Fields of Science

  • RNA-POLYMERASE-I
  • III CAUSE
  • LEUKODYSTROPHY
  • CHOLESTEROL
  • PREDICTION
  • TRANSPORT
  • PROTEINS
  • SUBUNITS
  • FAMILY
  • GENES
  • 3111 Biomedicine
  • 317 Pharmacy
  • 1184 Genetics, developmental biology, physiology
  • 1182 Biochemistry, cell and molecular biology

Cite this

Kara, B., Koroglu, C., Peltonen, K., Steinberg, R. C., Genc, H. M., Holtta-Vuori, M., Guven, A., Kanerva, K., Kotil, T., Solakoglu, S., Zhou, Y., Olkkonen, V. M., Ikonen, E., Laiho, M., & Tolun, A. (2017). Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A. European Journal of Human Genetics, 25(3), 315-323. https://doi.org/10.1038/ejhg.2016.183