medRxiv 预印本· Nutile, T., Ruggiero, D., Pluntz, M., Lebenberg, J., Lambert, L., Cipriano, L., Di Pietro, A., Sandroni, V., Cennamo, P., Herve, D., Guey, S., Calabrese, M. D., Lucibello, S., Herzig, A. F., Trojano, L., Pizza, V., Tournier-Lasserve, E., Perdry, H., Chabriat, H., Leutenegger, A.-L., Ciullo, M. ·· 1 天前AI 评分22
NOTCH3 p.Arg1231Cys 突变在三个欧洲队列中表现出的情境依赖性表型差异及 LDL 胆固醇的潜在影响
FROM ASYMPTOMATIC CARRIERS TO CADASIL: CONTEXT-DEPENDENT PHENOTYPIC VARIABILITY OF THE NOTCH3 P.ARG1231CYS VARIANT ACROSS THREE EUROPEAN COHORTS AND POTENTIAL IMPLICATIONS OF LDL CHOLESTEROL
AI 导读
一项 medRxiv 预印本研究比较了携带同一致病 NOTCH3 p.Arg1231Cys 突变的个体在意大利 Cilento 奠基者人群（CILCAD）、英国生物样本库（UKB）和法国 Lariboisiere 医院临床转诊队列（LRB）中的表型差异。
来源：medRxiv 预印本 · medrxiv.org