دورية
Bi-allelic NIT1variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage
| العنوان: | Bi-allelic NIT1variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage |
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| المؤلفون: | Rutten, Julie W., Cerfontaine, Minne N., Dijkstra, Kyra L., Mulder, Aat A., Vreijling, Jeroen, Kruit, Mark, Koning, Roman I., de Bot, Susanne T., van Nieuwenhuizen, Koen M., Baelde, Hans J., Berendse, Henk W., Mei, Leon H., Ruijter, George J.G., Baas, Frank, Jost, Carolina R., van Duinen, Sjoerd G., Nibbeling, Esther A.R., Gravesteijn, Gido, Lesnik Oberstein, Saskia A.J. |
| المصدر: | Genetics in Medicine; 20240101, Issue: Preprints |
| مستخلص: | To describe a recessively inherited cerebral small vessel disease, caused by loss-of-function variants in Nitrilase1(NIT1). |
| قاعدة البيانات: | Supplemental Index |
| تدمد: | 10983600 15300366 |
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| DOI: | 10.1016/j.gim.2024.101105 |