The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema.
Cumming
S-A
SA
Respiratory Medicine Unit, Department of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Hills Road, Cambridge CB2 2XY, UK.
Halsall
D J
DJ
Ewan
P W
PW
Lomas
D A
DA
D000293:Adolescent; D000328:Adult; D000368:Aged; D000799:Angioedema / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; D005091:Exons; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D012326:RNA Splicing; D017384:Sequence Deletion; D015843:Serpins / Q000172:deficiency / Q000235:genetics* / Q000502:physiology
D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human; D015843:Serpins