TY  - GEN
AU  - Freiberger,Tomás
AU  - Kolárová,Lenka
AU  - Mejstrík,Pavel
AU  - Vyskocilová,Martina
AU  - Kuklínek,Pavel
AU  - Litzman,Jirí
TI  - Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema
SN  - 1098-1004
PY  - 2002///0830
KW  - Angioedema
KW  - classification
KW  - Codon, Nonsense
KW  - genetics
KW  - Complement C1 Inactivator Proteins
KW  - Complement C1 Inhibitor Protein
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Frameshift Mutation
KW  - Humans
KW  - Polymorphism, Genetic
KW  - Sequence Deletion
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.9029
ER  -