TY  - JOUR 
AU  - Blanch, Álvaro
AU  - Roche, Olga
AU  - López-Granados, Eduardo
AU  - Fontán, Gumersindo
AU  - López-Trascasa, Margarita
PY  - 2002
SN  - 1059-7794
UR  - http://hdl.handle.net/20.500.12020/1151
AB  - Hereditary angioedema (HAE) is caused by mutations in the C1 inhibitor gene (SERPING1, C1NH) and the result is C1 inhibitor deficiency, either in levels or function. We have searched exon 8 for mutations by direct sequencing and analyzed the rest of...
LA  - en
PB  - Wiley
TI  - Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations
DO  - https://doi.org/10.1002/humu.9073
T2  - Human Mutation: Variation, Informatics and Disease
M2  - 405
KW  - Complement
KW  - HAE
KW  - Hereditary Angioedema
KW  - SERPING1
KW  - C1 inh
KW  - C1NH
KW  - C1 Inhibitor
VL  - 20
ER  -