New mutations in C1 esterase inhibitor (SERPING1) in a German family with hereditary angioedema.
El-Meguid
Aly M A
AM
Institute for Clinical Chemistry & Laboratory Medicine, University of Regensburg, Regensburg, Germany.
Aslanidis
Charalampos
C
Schimanski
Seven
S
Schambeck
Christian
C
Schmitz
Gerd
G
D054179:Angioedemas, Hereditary / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D050718:Complement C1 Inhibitor Protein / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D005858:Germany; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
D050718:Complement C1 Inhibitor Protein