OpenURL Connection Search - EBSCO

Connecting you to content on EBSCOhostUNIVERSITÄT DORTMUND

Select item for more details and to access through your institution.

Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.
Published in:
Human Genetics, 2022, v. 141, n. 8, p. 1355, doi. 10.1007/s00439-021-02427-4
By:
- McTiernan, Nina;
- Tranebjærg, Lisbeth;
- Bjørheim, Anna S.;
- Hogue, Jacob S.;
- Wilson, William G.;
- Schmidt, Berkley;
- Boerrigter, Melissa M.;
- Nybo, Maja L.;
- Smeland, Marie F.;
- Tümer, Zeynep;
- Arnesen, Thomas
Publication type:
Article
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Published in:
2021
By:
- Spinelli, Egidio;
- Christensen, Kyle R.;
- Bryant, Emily;
- Schneider, Amy;
- Rakotomamonjy, Jennifer;
- Muir, Alison M.;
- Giannelli, Jessica;
- Littlejohn, Rebecca O.;
- Roeder, Elizabeth R.;
- Schmidt, Berkley;
- Wilson, William G.;
- Marco, Elysa J.;
- Iwama, Kazuhiro;
- Kumada, Satoko;
- Pisano, Tiziana;
- Barba, Carmen;
- Vetro, Annalisa;
- Brilstra, Eva H.;
- van Jaarsveld, Richard H.;
- Matsumoto, Naomichi
Publication type:
journal article