A cell-based functional assay that accurately links genotype to phenotype in Familial HLH
| Autor: | Noori, Tahereh, Rudd-Schmidt, Jesse A., Kane, Alisa, Frith, Katie, Gray, Paul E., Hu, Hannah, Hsu, Danny, Chung, Clara W.T., Hodel, Adrian W., Trapani, Joseph A., Voskoboinik, Ilia |
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| Zdroj: | Blood; 20230101, Issue: Preprints |
| Abstrakt: | A novel approach identifies pathogenicity of PRF1, UNC13D, STX11and STXBP2mutations and accurately distinguishes Familial and acquired HLH |
| Databáze: | Supplemental Index |
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