A novel donor splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioneurotic edema

Journal of Investigative Dermatology

Volumn 110, Issue 5, 1998, Pages 837-839

  Kawachi, Yasuhiro ^a   Hibi, Takenobu ^a   Yamazaki, Soji ^b   Otsuka, Fujio ^a  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b DOKKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

Direct sequencing; Point mutation

Indexed keywords

COMPLEMENT COMPONENT C1S INHIBITOR; MESSENGER RNA;

ADULT; ALLELE; ANGIONEUROTIC EDEMA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; COMPLEMENT ACTIVATION; COMPLEMENT DEFICIENCY; CONTROLLED STUDY; DONOR SITE; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; INTRON; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA PROCESSING;

EID: 0031900963     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00170.x     Document Type: Article

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