Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema.

Human mutation

Volumn 19, Issue 4, 2002, Pages 461-

  Freiberger, Tomás ^a   Kolárová, Lenka ^a   Mejstrík, Pavel ^a   Vyskocilová, Martina ^a   Kuklínek, Pavel ^a   Litzman, Jirí ^a  

^a Research Institute of Child Health Brno   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C1S INHIBITOR;

ANGIONEUROTIC EDEMA; ARTICLE; CLASSIFICATION; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENETIC POLYMORPHISM; GENETICS; HUMAN; NUCLEOTIDE SEQUENCE; STOP CODON;

ANGIONEUROTIC EDEMA; CODON, NONSENSE; COMPLEMENT C1 INACTIVATOR PROTEINS; COMPLEMENT C1 INHIBITOR PROTEIN; DNA MUTATIONAL ANALYSIS; EXONS; FRAMESHIFT MUTATION; HUMANS; POLYMORPHISM, GENETIC; SEQUENCE DELETION;

MLCS; MLOWN;

EID: 0036546973     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9029     Document Type: Article

References (0)