dc.contributor.author | WATZINGER, F | |
dc.contributor.author | WITTWER, G | |
dc.contributor.author | THURNHER, D | |
dc.contributor.author | YERIT, K | |
dc.contributor.author | SINKO, K | |
dc.contributor.author | ADEYEMO, WL | |
dc.contributor.author | EWERS, R | |
dc.contributor.author | FREI, K | |
dc.contributor.author | Erginel-Unaltuna, Nihan | |
dc.contributor.author | ITEM, CB | |
dc.contributor.author | TURHANI, D | |
dc.date.accessioned | 2021-03-03T16:31:11Z | |
dc.date.available | 2021-03-03T16:31:11Z | |
dc.date.issued | 2005 | |
dc.identifier.citation | ITEM C., TURHANI D., THURNHER D., YERIT K., SINKO K., WITTWER G., ADEYEMO W., FREI K., Erginel-Unaltuna N., WATZINGER F., et al., "Van der Woude syndrome: Variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family", INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, cilt.15, sa.2, ss.247-251, 2005 | |
dc.identifier.issn | 1107-3756 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_44ad5b9f-bda5-44a9-860a-ca3fd20391d5 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/49843 | |
dc.description.abstract | Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by clefts of the lip and/or palate (CL+/-P), lip pits, bifid uvula and hypodontia. Mutations of the interferon regulatory factor 6 gene (IRF6) have been recently described in patients with VWS. The entire 9 exons of the IRF6 gene in two brothers of Turkish origin clinically diagnosed with Van der Woude syndrome and four healthy family members were screened for mutations using a newly established denaturing gradient gel electrophoresis (DGGE) method. A novel heterozygous mutation in exon 2 (DNA binding region) of the IRF6 gene, p.Arg84Gly, was found in both brothers with VWS and in their clinically asymptomatic mother. Our results suggest a dominant negative effect of the p.Arg84Gly mutation in the VWS of both patients. Non-penetrance of this mutation is suggested in the mother of the patients. | |
dc.language.iso | eng | |
dc.subject | Klinik Tıp | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Ekoloji ve Hidroklimatoloji | |
dc.subject | TIP, ARAŞTIRMA VE DENEYSEL | |
dc.title | Van der Woude syndrome: Variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family | |
dc.type | Makale | |
dc.relation.journal | INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE | |
dc.contributor.department | , , | |
dc.identifier.volume | 15 | |
dc.identifier.issue | 2 | |
dc.identifier.startpage | 247 | |
dc.identifier.endpage | 251 | |
dc.contributor.firstauthorID | 28579 | |