TY  - JOUR 
AU  - Roche, Olga
AU  - Blanch, Álvaro
AU  - Duponchel, Christiane
AU  - Fontán, Gumersindo
AU  - Tosi, Mario
AU  - López-Trascasa, Margarita
PY  - 2005
SN  - 1059-7794
UR  - http://hdl.handle.net/20.500.12020/1141
AB  - Hereditary angioedema (HAE) is a disease caused by defects in the C1 inhibitor gene (SERPING1/C1NH). We
screened the entire C1NH gene for mutations in a large series of 87 Spanish families (77 with type I, and 10
with type II HAE) by SSCP,...
LA  - en
PB  - Wiley
TI  - Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort
DO  - https://doi.org/10.1002/humu.20197
T2  - Human Mutation
M2  - 135
KW  - Hereditary Angioedema
KW  - HAE
KW  - C1-Inhibitor
KW  - C1NH
KW  - SERPING1
KW  - Mutation Screening
KW  - Splicing Mutation
KW  - Exonic Splicing Enhancer
KW  - ESE
KW  - Alu Mediated Deletion/Duplication
KW  - Uncharacterized Sequence Variant
KW  - USV
VL  - 26
ER  -