A novel RNA splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioedema

Internal Medicine

Volumn 43, Issue 3, 2004, Pages 253-255

  Sekijima, Yoshiki ^b   Hashimoto, Takao ^b   Kawachi, Yasuhiro ^a   Koshihara, Hiroshi ^b   Otsuka, Fujio ^a   Ikeda, Shu Ichi ^b  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Angioedema; C1 inhibitor gene; C1NH; Direct sequencing; HAE; Point mutation

Indexed keywords

ADENINE; COMPLEMENT COMPONENT C1S INHIBITOR; COMPLEMENT COMPONENT C3; COMPLEMENT COMPONENT C4; DANAZOL; DNA; GENOMIC DNA; GUANINE; MESSENGER RNA; NUCLEOTIDE; TRANSFER RNA;

ABDOMINAL PAIN; ADULT; ANGIONEUROTIC EDEMA; ARTICLE; BLOOD ANALYSIS; CASE REPORT; COMPLEMENT HEMOLYSIS TEST; DISEASE CLASSIFICATION; DNA DETERMINATION; HEADACHE; HOSPITAL ADMISSION; HUMAN; INTRON; JAPAN; LABORATORY TEST; MALE; MYALGIA; NAUSEA; PHYSICAL EXAMINATION; POINT MUTATION; POLYMERASE CHAIN REACTION; RNA SPLICING; SITE DIRECTED MUTAGENESIS; SKIN EDEMA; SYMPTOMATOLOGY;

ANGIONEUROTIC EDEMA; COMPLEMENT C1 INACTIVATOR PROTEINS; COMPLEMENT C1 INHIBITOR PROTEIN; CYSTEINE PROTEINASE INHIBITORS; HUMANS; MALE; MIDDLE AGED; POINT MUTATION; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA;

EID: 1842855941     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.43.253     Document Type: Article

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