dc.contributor.author |
Szarvas, Nóra |
|
dc.contributor.author |
Barabas E |
|
dc.contributor.author |
Varnai K |
|
dc.contributor.author |
Halasz A |
|
dc.contributor.author |
Varga, Lilian |
|
dc.contributor.author |
Prohászka, Zoltán |
|
dc.contributor.author |
Farkas, Henriette |
|
dc.contributor.author |
Szilágyi, Ágnes |
|
dc.date.accessioned |
2016-01-19T10:12:55Z |
|
dc.date.available |
2016-01-19T10:12:55Z |
|
dc.date.issued |
2013 |
|
dc.identifier |
84887329982 |
|
dc.identifier.citation |
pagination=142-145;
journalVolume=149;
journalIssueNumber=1;
journalTitle=CLINICAL IMMUNOLOGY; |
|
dc.identifier.uri |
http://repo.lib.semmelweis.hu//handle/123456789/2078 |
|
dc.identifier.uri |
doi:10.1016/j.clim.2013.08.001 |
|
dc.description.abstract |
Edema formation is mediated by histamine or bradykinin release and may have several hereditary and acquired causes. In hereditary forms of bradykinin-mediated angioedemas, mutations in the genes encoding C1-inhibitor (SERPING1) as well as coagulation factor XII (F12) have been described. We present a novel F12 gene mutation, a duplication of 18 base pairs (c.892_909dup) in a 37-year-old woman with recurrent angioedema and normal C1-inhibitor level. A single episode of facial edema in the family of the patient showed co-segregation with the mutation. This duplication is causing the repeated presence of 6 amino acids (p.298-303) in the same region of factor XII, as those three mutations described previously in cases of hereditary angioedema with normal C1-INH function. These results may confirm the importance of the proline-rich region of factor XII protein in edema formation. |
|
dc.relation.ispartof |
urn:issn:1521-6616 |
|
dc.title |
Novel duplication in the F12 gene in a patient with recurrent angioedema. |
|
dc.type |
Journal Article |
|
dc.date.updated |
2015-07-28T11:43:43Z |
|
dc.language.rfc3066 |
en |
|
dc.identifier.mtmt |
2420252 |
|
dc.identifier.wos |
000325510100015 |
|
dc.identifier.pubmed |
23994767 |
|
dc.contributor.department |
SE/AOK/K/III. Sz. Belgyógyászati Klinika |
|
dc.contributor.institution |
Semmelweis Egyetem |
|