Author(s): Rolfs, Prof. Arndt, MD, Klein, Prof. Christine, MD, Lohmann, Katja, PhD, Vulinović, Franca, Rakovic, Aleksandar, PhD, Capetian, Philipp, MD, Alvarez-Fischer, Daniel, MD, Schmidt, Alexander, PhD, Weißbach, Anne, MD, Erogullari, Alev, Kaiser, Frank J., PhD, Wiegers, Karin, Ferbert, Prof. Andreas, MD, Seibler, Philip, PhD
We report two new, putative TOR1A mutations that we examined functionally in comparison with wild-type protein and two known mutations. Read more!
Here, we report two new, putative TOR1A mutations (p.A14_P15del and p.E121K) that we examined functionally in comparison with wildtype (WT) protein and two known mutations (E and p.R288Q).
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