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Genotype-Phenotype Correlations in Chronic Granulomatous Disease: Insights from a Large National Cohort

Baruch Wolach,Ronit Gavrieli,Ofir Wolach,Pazit Salamon,Martin de Boer,Karin van Leeuwen,Omar Abuzaitoun,Arnon Broides,Giora Gottesman,Galia Grisaru-Soen,David Hagin,Nufar Marcus,Menachem Rottem,Yechiel Schlesinger,Tali Stauber,Polina Stepensky,Yael Dinur-Schejter,Tal Zeeli,Suheir Hanna,Amos Etzioni,Shirly Frizinsky,Raz Somech,Dirk Roos,Idit Lachover-Roth

BLOOD（2024）

引用 0|浏览9
关键词
Chronic Granulomatous Disease (CGD),NADPH oxidase,Hypomorphic mutations,Clinical Severity Score (CSS),Hematopoietic Stem Cell Transplantation (HSCT)
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