The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema.

Journal of medical genetics

Volumn 40, Issue 10, 2003, Pages

  Cumming, S A ^a   Halsall, D J ^a   Ewan, P W ^a   Lomas, D A ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT C1 INHIBITOR, HUMAN; COMPLEMENT COMPONENT C1S INHIBITOR; SERINE PROTEINASE INHIBITOR;

ADOLESCENT; ADULT; AGED; ANGIONEUROTIC EDEMA; ARTICLE; BLOOD; EXON; GENE DELETION; GENETIC POLYMORPHISM; GENETICS; HAPLOTYPE; HUMAN; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHYSIOLOGY; RNA SPLICING;

ADOLESCENT; ADULT; AGED; ANGIONEUROTIC EDEMA; BASE SEQUENCE; COMPLEMENT C1 INACTIVATOR PROTEINS; EXONS; HAPLOTYPES; HUMANS; MIDDLE AGED; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; RNA SPLICING; SEQUENCE DELETION; SERPINS;

MLCS; MLOWN;

EID: 0242304167     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.40.10.e114     Document Type: Article

References (0)