Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Document Type
Journal Article
Publication Date
6-3-2020
Journal
Human Molecular Genetics
Volume
29
Issue
9
Inclusive Pages
1426-1439
DOI
10.1093/hmg/ddaa051
Keywords
Acetyltransferases; Age of Onset; Antigens, Surface; Cell Nucleus; Child; Child, Preschool; Exodeoxyribonucleases; Female; Flavoproteins; Gene Expression Regulation; Glycoproteins; Humans; Intellectual Disability; Intracellular Signaling Peptides and Proteins; Introns; Male; Nervous System Diseases; Nuclear Proteins; Peripheral Nervous System Diseases; Phenotype; Phosphoproteins; Phosphoric Monoester Hydrolases; Protein Conformation; RNA Transport; RNA, Messenger; Transcription Factors
APA Citation
Woldegebriel, R., Kvist, J., Andersson, N., Õunap, K., Reinson, K., Wojcik, M., Bijlsma, E., Hoffer, M., Ryan, M., Stark, Z., Walsh, M., Cuppen, I., van den Boogaard, M., Bharucha-Goebel, D., Donkervoort, S., Winchester, S., Zori, R., Bönnemann, C., Maroofian, R., O'Connor, E., Houlden, H., Zhao, F., Carpén, O., White, M., Sreedharan, J., Stewart, M., Ylikallio, E., & Tyynismaa, H. (2020). Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.. Human Molecular Genetics, 29 (9). http://dx.doi.org/10.1093/hmg/ddaa051
Peer Reviewed
1
