A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings

Autor: Fusaro, Mathieu, Coustal, Cyrille, Barnabei, Laura, Riller, Quentin, Heller, Marion, Ho Nhat, Duong, Fourrage, Cécile, Rivière, Sophie, Rieux-Laucat, Frédéric, Maria, Alexandre Thibault Jacques, Picard, Capucine
Zdroj: In Clinical Immunology April 2024 261
Databáze: ScienceDirect