Himmelreich, N., Dimitrov, B., Zielonka, M., Hüllen, A., Hoffmann, G. F., Juenger, H., . . . Thiel, C. (2022). Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature. Molecular genetics and metabolism, 136(4), . https://doi.org/10.1016/j.ymgme.2022.06.005
Chicago-Zitierstil (17. Ausg.)Himmelreich, Nastassja, et al. "Missense Variant C.1460 T > C (p.L487P) Enhances Protein Degradation of ER Mannosyltransferase ALG9 in Two New ALG9-CDG Patients Presenting with West Syndrome and Review of the Literature." Molecular Genetics and Metabolism 136, no. 4 (2022). https://doi.org/10.1016/j.ymgme.2022.06.005.
MLA-Zitierstil (9. Ausg.)Himmelreich, Nastassja, et al. "Missense Variant C.1460 T > C (p.L487P) Enhances Protein Degradation of ER Mannosyltransferase ALG9 in Two New ALG9-CDG Patients Presenting with West Syndrome and Review of the Literature." Molecular Genetics and Metabolism, vol. 136, no. 4, 2022, https://doi.org/10.1016/j.ymgme.2022.06.005.