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.