Clinical and Molecular Aspects of Turkish Familial Hemophagocytic Lymphohistiocytosis Patients With Perforin Mutations
| dc.contributor.author | Okur, Hamza | |
| dc.contributor.author | Balta, Gunay | |
| dc.contributor.author | Akarsu, Nurten | |
| dc.contributor.author | Oner, Ahmet | |
| dc.contributor.author | Patiroglu, Turkan | |
| dc.contributor.author | Bay, Ali | |
| dc.contributor.author | Gurgey, Aytemiz | |
| dc.date.accessioned | 2025-05-10T17:27:10Z | |
| dc.date.available | 2025-05-10T17:27:10Z | |
| dc.date.issued | 2008 | |
| dc.description | Akarsu, Nurten/0000-0001-5432-0032 | en_US |
| dc.description.abstract | The aim of this study was to elucidate the pathologic sequence changes and associated clinical phenotypes in 9 new patients showing homozygosity for perforin gene among a total of 37 (24%) Turkish FHL families studied by linkage analysis. These 9 unrelated patients (5M/4F) were coming from consanguineous families and their presentation ages of systemic symptoms were ranged from birth to 15 years. Direct sequencing of coding exons of the perforin gene led to the identification of five different homozygous alterations. The nonsense W374X mutation was identified in three patients while four different missense mutations namely G149S, V50M, A91V and novel A523D were detected in the rest six patients. (c) 2007 Elsevier Ltd. All rights reserved. | en_US |
| dc.identifier.doi | 10.1016/j.leukres.2007.11.033 | |
| dc.identifier.issn | 0145-2126 | |
| dc.identifier.issn | 1873-5835 | |
| dc.identifier.scopus | 2-s2.0-40849097696 | |
| dc.identifier.uri | https://doi.org/10.1016/j.leukres.2007.11.033 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14720/11905 | |
| dc.language.iso | en | en_US |
| dc.publisher | Pergamon-elsevier Science Ltd | en_US |
| dc.rights | info:eu-repo/semantics/closedAccess | en_US |
| dc.subject | Fhl | en_US |
| dc.subject | Perforin Gene | en_US |
| dc.subject | Mutations | en_US |
| dc.subject | Clinical Presentations | en_US |
| dc.title | Clinical and Molecular Aspects of Turkish Familial Hemophagocytic Lymphohistiocytosis Patients With Perforin Mutations | en_US |
| dc.type | Article | en_US |
| dspace.entity.type | Publication | |
| gdc.author.id | Akarsu, Nurten/0000-0001-5432-0032 | |
| gdc.author.scopusid | 7005245757 | |
| gdc.author.scopusid | 6701519928 | |
| gdc.author.scopusid | 6507853186 | |
| gdc.author.scopusid | 7005791514 | |
| gdc.author.scopusid | 7003918530 | |
| gdc.author.scopusid | 55640373400 | |
| gdc.author.scopusid | 8914207300 | |
| gdc.author.wosid | Unal, Serhat/I-9034-2013 | |
| gdc.author.wosid | Balta, Gunay/J-1568-2013 | |
| gdc.author.wosid | Akarsu, Nurten/E-9758-2013 | |
| gdc.coar.access | metadata only access | |
| gdc.coar.type | text::journal::journal article | |
| gdc.description.department | T.C. Van Yüzüncü Yıl Üniversitesi | en_US |
| gdc.description.departmenttemp | [Okur, Hamza; Balta, Gunay; Akarsu, Nurten; Unal, Sule; Gurgey, Aytemiz] Hacettepe Univ, Fac Med, Dept Pediat, Div Pediat Hematol, TR-06100 Ankara, Turkey; [Oner, Ahmet; Bay, Ali] Yuzuncu Yil Univ, Fac Med, Div Hematol, Van, Turkey; [Patiroglu, Turkan] Erciyes Univ, Div Pediat Hematol, Kayseri, Turkey; [Sayli, Tulin] SSK Ankara Childrens Training Hosp, Ankara, Turkey | en_US |
| gdc.description.endpage | 975 | en_US |
| gdc.description.issue | 6 | en_US |
| gdc.description.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| gdc.description.scopusquality | Q3 | |
| gdc.description.startpage | 972 | en_US |
| gdc.description.volume | 32 | en_US |
| gdc.description.woscitationindex | Science Citation Index Expanded | |
| gdc.description.wosquality | Q3 | |
| gdc.identifier.pmid | 18190960 | |
| gdc.identifier.wos | WOS:000255269100018 | |
| gdc.index.type | WoS | |
| gdc.index.type | Scopus | |
| gdc.index.type | PubMed |