DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

Autor: Volk, Timo, Pannicke, Ulrich, Reisli, Ismail, Bulashevska, Alla, Ritter, Julia, Bjorkman, Andrea, Schaffer, Alejandro A., Fliegauf, Manfred, Sayar, Esra H., Salzer, Ulrich, Fisch, Paul, Pfeifer, Dietmar, Di Virgilio, Michela, Hongzhi Cao, Fang Yang, Zimmermann, Karin, Keles, Sevgi, Caliskaner, Zafer, Güner, SŞkrü, Schindler, Detlev
Zdroj: Human Molecular Genetics; 12/20/2015, Vol. 24 Issue 25, p7361-7372, 12p
Databáze: Complementary Index