A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation.
López-Lera
Alberto
A
Favier
Bertrand
B
de la Cruz
Rocío Mena
RM
Garrido
Sofía
S
Drouet
Christian
C
López-Trascasa
Margarita
M
D000328:Adult; D054179:Angioedemas, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology*; D002461:Cell Line, Transformed; D002675:Child, Preschool; D050718:Complement C1 Inhibitor Protein / Q000235:genetics / Q000378:metabolism*; D015922:Complement C1q / Q000172:deficiency*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005190:Family; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D050505:Mutant Proteins / Q000235:genetics / Q000378:metabolism*; D009154:Mutation / Q000235:genetics; D009391:Nephelometry and Turbidimetry; D020842:Plasma Kallikrein / Q000378:metabolism; D011485:Protein Binding / Q000235:genetics / Q000276:immunology; D011487:Protein Conformation; D019076:Transgenes / Q000235:genetics
D050718:Complement C1 Inhibitor Protein; D050505:Mutant Proteins; D015922:Complement C1q; D020842:Plasma Kallikrein