دورية
Whole F9gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients
| العنوان: | Whole F9gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients |
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| المؤلفون: | Dericquebourg, Amy, Fretigny, Mathilde, Chatron, Nicolas, Tardy, Brigitte, Zawadzki, Christophe, Chambost, Hervé, Vinciguerra, Christine, Jourdy, Yohann |
| المصدر: | Journal of Thrombosis and Haemostasis; April 2023, Vol. 21 Issue: 4 p828-837, 10p |
| مستخلص: | The disease-causative variant remains unidentified in approximately 0.5% to 2% of hemophilia B patients using conventional genetic investigations, and F9deep intronic variations could be responsible for these phenotypes. |
| قاعدة البيانات: | Supplemental Index |
| تدمد: | 15387933 15387836 |
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| DOI: | 10.1016/j.jtha.2022.12.005 |