Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH.

Human mutation

Volumn 27, Issue 3, 2006, Pages 295-296

  Duponchel, Christiane ^a   Djenouhat, Kamel ^a   Frémeaux Bacchi, Véronique ^a   Monnier, Nicole ^a   Drouet, Christian ^a   Tosi, Mario ^a  

^a INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

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

ADOLESCENT; ADULT; ALTERNATIVE RNA SPLICING; ANGIONEUROTIC EDEMA; ARTICLE; BIOLOGICAL MODEL; CHILD; FEMALE; GENETIC POLYMORPHISM; GENETICS; HUMAN; INFANT; INTRON; MALE; METABOLISM; MOLECULAR GENETICS; MONOCYTE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; ANGIONEUROTIC EDEMA; BASE SEQUENCE; CHILD; COMPLEMENT C1 INACTIVATOR PROTEINS; FEMALE; HUMANS; INFANT; INTRONS; MALE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MONOCYTES; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; SERPINS;

EID: 33746661188     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9414     Document Type: Article

References (0)