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Page 1
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.
Spangsberg Petersen US, Dembic M, Martínez-Pizarro A, Richard E, Holm LL, Havelund JF, Doktor TK, Larsen MR, Færgeman NJ, Desviat LR, Andresen BS. Spangsberg Petersen US, et al. Among authors: doktor tk. Mol Ther Nucleic Acids. 2023 Dec 13;35(1):102101. doi: 10.1016/j.omtn.2023.102101. eCollection 2024 Mar 12. Mol Ther Nucleic Acids. 2023. PMID: 38204914 Free PMC article.
Identification of SRSF10 as a regulator of SMN2 ISS-N1.
Frederiksen SB, Holm LL, Larsen MR, Doktor TK, Andersen HS, Hastings ML, Hua Y, Krainer AR, Andresen BS. Frederiksen SB, et al. Among authors: doktor tk. Hum Mutat. 2021 Mar;42(3):246-260. doi: 10.1002/humu.24149. Epub 2020 Dec 16. Hum Mutat. 2021. PMID: 33300159 Free PMC article.
29 results