Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

TitleActivation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.
Publication TypeJournal Article
AuthorsSimon, MT, Ng, BG, Friederich, MW, Wang, RY, Boyer, M, Kircher, M, Collard, R, Buckingham, KJ, Chang, R, Shendure, J, Nickerson, DA, Bamshad, MJ, Van Hove, JLK, Freeze, HH, Abdenur, JE
Corporate AuthorsUniversity of Washington Center for Mendelian Genomics
PubMed ID28216230
PubMed Central IDPMC5444868
Grant ListR01 DK055615 / DK / NIDDK NIH HHS / United States
R01 DK099551 / DK / NIDDK NIH HHS / United States
UM1 HG006493 / HG / NHGRI NIH HHS / United States