Publication | Closed Access

Characterization of non-expressed C4 genes in a case of complete C4 deficiency: identification of a novel point mutation leading to a premature stop codon

Premature Stop CodonGenetic DisorderNatural SciencesGeneticsMolecular BiologyComplete C4 DeficiencyMolecular GeneticsGene CharacterizationDisease Gene IdentificationGenomicsGene ExpressionMedicineInborn Error Of ImmunityNovel Point Mutation