日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Phenotypic spectrum in a family with a novel RAC2 p.I21S dominant-activating mutation

具有新型 RAC2 p.I21S 显性激活突变的家族的表型谱

Louisa Ashby, Lydia Chan, Christine Winterbourn, See-Tarn Woon, Paula Keating, Raoul Heller, Rohan Ameratunga, Ignatius Chua, Kuang-Chih Hsiao

Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus

TACI(TNFRSF13B)和 TCF3 突变之间的上位性相互作用导致严重的原发性免疫缺陷病和系统性红斑狼疮

Rohan Ameratunga, Wikke Koopmans, See-Tarn Woon, Euphemia Leung, Klaus Lehnert, Charlotte A Slade, Jessica C Tempany, Anselm Enders, Richard Steele, Peter Browett, Philip D Hodgkin, Vanessa L Bryant