The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope

Autor: Al-Saaidi, Rasha A., Rasmussen, Torsten B., Birkler, Rune I.D., Palmfeldt, Johan, Beqqali, Abdelaziz, Pinto, Yigal M., Nissen, Peter H., Baandrup, Ulrik, Mølgaard, Henning, Hey, Thomas M., Eiskjær, Hans, Bross, Peter, Mogensen, Jens

Publikováno v: Al-Saaidi, R A, Rasmussen, T B, Birkler, R I D, Palmfeldt, J, Beqqali, A, Pinto, Y M, Nissen, P H, Baandrup, U, Mølgaard, H, Hey, T M, Eiskjaer, H, Bross, P & Mogensen, J 2018, ' The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope ', European Journal of Heart Failure, vol. 20, no. 10, pp. 1404-1412 . https://doi.org/10.1002/ejhf.1241
European journal of heart failure, 20(10), 1404-1412. Wiley-Blackwell
Al-Saaidi, R A, Rasmussen, T B, Birkler, R I D, Palmfeldt, J, Beqqali, A, Pinto, Y M, Nissen, P H, Baandrup, U, Mølgaard, H, Hey, T M, Eiskjær, H, Bross, P & Mogensen, J 2018, ' The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope ', European Journal of Heart Failure, vol. 20, no. 10, pp. 1404-1412 . https://doi.org/10.1002/ejhf.1241

AIMS: Lamin A/C mutations are generally believed to be associated with a severe prognosis. The aim of this study was to investigate disease expression in three affected families carrying different LMNA missense mutations. Furthermore, the potential m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::082b09cd8a765a3d21df9fc77d6547e4
https://vbn.aau.dk/ws/files/320465937/Al_Saaidi_et_al_EJHF_R1_2018_1.pdf