Condition: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE


rs1449441916 in C3 gene and COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE PMID 7961791 1994 Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion.