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Homozygous c.130–131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry

dc.contributor.authorYılmaz, Karapınar, D.
dc.contributor.authorPatıroğlu, T.
dc.contributor.authorMetin, A.
dc.contributor.authorÇalışkan, Ü.
dc.contributor.authorCelkan, T.
dc.contributor.authorYılmaz, B.
dc.contributor.authorKarakaş, Z.
dc.contributor.authorKarapınar, T.H.
dc.contributor.authorAkıncı, B.
dc.contributor.authorÖzkınay, F.
dc.contributor.authorOnay, H.
dc.date.accessioned2021-12-21T08:40:59Z
dc.date.available2021-12-21T08:40:59Z
dc.date.issued2019
dc.identifier.issn15455009
dc.identifier.urihttps://doi.org/10.1002/pbc.27923
dc.identifier.urihttp://dspace.yeniyuzyil.edu.tr:8080/xmlui/handle/20.500.12629/1278
dc.description.abstractBackground: Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE mutation is the most frequently observed genetic defect in the registries from North America and Western Europe. However, in eastern countries where cons
dc.description.sponsorshipThis study was supported by Scientific and Technological Research Council of Turkey (TÜB˙TAK) and the Turkish Pediatric Hematology Association.
dc.language.isoEnglish
dc.publisherJohn Wiley and Sons Inc.
dc.titleHomozygous c.130–131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry
dc.typeArticle
dc.relation.journalPediatric Blood and Cancer
dc.identifier.issue10
dc.identifier.volume66
dc.identifier.doi10.1002/pbc.27923
dc.relation.issue10
dc.relation.volume66


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