Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter
Abstract Background the protein phosphatase 3 catalytic subunit alpha (PPP3CA) gene encodes for the alpha isoform of the calcineurin catalytic subunit, which controls the phosphorylation status of many targets. Currently, 23 pathogenic variants of PPP3CA are known, with clinical manifestations varyi...
Сохранить в:
| Главные авторы: | , , , , , , , , , , , , , , , |
|---|---|
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BMC
2024-12-01
|
| Серии: | Orphanet Journal of Rare Diseases |
| Предметы: | |
| Online-ссылка: | https://doi.org/10.1186/s13023-024-03507-0 |
| Метки: |
Нет меток, Требуется 1-ая метка записи!
|