TY  - GEN 
AU  - Lizama-Muñoz, Asier
AU  - Gutiérrez-Bautista, Juan Francisco
AU  - Bernal, Monica
AU  - López Nevot, Miguel Ángel
PY  - 2025
UR  - https://hdl.handle.net/10481/106144
AB  - Background: Patients with C5 mutations are more susceptibility to Gramnegative bacterial infections, particularly Neisseria species.
Objective: To describe the phenotype and clinical features of a family carrying
two C5 gene variants, including one...
LA  - eng
PB  - Frontiers Research Foundation
KW  - Complement deficiency
KW  - C5 deficiency
KW  - C5 mutation
KW  - Novel mutation
KW  - Phenotype and genotype
TI  - Description and phenotype of a novel C5 gene mutation and a novel combination: family report and literature review
DO  - 10.3389/fimmu.2025.1605903
ER  -