β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
Saved in:
| Title: | β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity. |
|---|---|
| Authors: | Dobritzsch, Doreen1 (AUTHOR), Meijer, Judith2 (AUTHOR), Meinsma, Rutger2 (AUTHOR), Maurer, Dirk3 (AUTHOR), Monavari, Ardeshir A.4 (AUTHOR), Gummesson, Anders5 (AUTHOR), Reims, Annika6 (AUTHOR), Cayuela, Jorge A.5 (AUTHOR), Kuklina, Natalia7 (AUTHOR), Benoist, Jean-François8 (AUTHOR), Perrin, Laurence8 (AUTHOR), Assmann, Birgit9 (AUTHOR), Hoffmann, Georg F.9 (AUTHOR), Bierau, Jörgen10,11 (AUTHOR), Kaindl, Angela M.12 (AUTHOR), van Kuilenburg, André B.P.1,2 (AUTHOR) a.b.vanKuilenburg@amsterdamumc.nl |
| Source: | Molecular Genetics & Metabolism. Jul2022, Vol. 136 Issue 3, p177-185. 9p. |
| Database: | Academic Search Ultimate |
| ISSN: | 10967192 |
|---|---|
| DOI: | 10.1016/j.ymgme.2022.01.102 |
