Molecular basis for factor H and FHL-1 deficiency in an Italian family.
Sánchez-Corral
P
P
Departamento de Immunología, Centro de Investigaciones Biológicas, Madrid, Spain.
Bellavia
D
D
Amico
L
L
Brai
M
M
Rodríguez de Córdoba
S
S
D017398:Alternative Splicing; D017242:Complement Factor H / Q000172:deficiency* / Q000235:genetics*; D003170:Complement Pathway, Alternative / Q000235:genetics; D003241:Consanguinity; D005260:Female; D006801:Humans; D007558:Italy / Q000208:ethnology; D008297:Male; D009154:Mutation; D010375:Pedigree
C493495:CFH protein, human; D017242:Complement Factor H