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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.authorKarapinar, Deniz Yilmaz
dc.contributor.authorPatiroglu, Turkan
dc.contributor.authorMetin, Ayse
dc.contributor.authorCaliskan, Umran
dc.contributor.authorCelkan, Tiraje
dc.contributor.authorYilmaz, Baris
dc.contributor.authorKarakas, Zeynep
dc.contributor.authorKarapinar, Tuba H.
dc.contributor.authorAkinci, Burcu
dc.contributor.authorOzkinay, Ferda
dc.contributor.authorOnay, Huseyin
dc.date.accessioned2021-12-21T08:47:59Z
dc.date.available2021-12-21T08:47:59Z
dc.date.issued2019
dc.identifier.issn1545-5009
dc.identifier.issn1545-5017
dc.identifier.urihttps://doi.org/10.1002/pbc.27923
dc.identifier.urihttp://dspace.yeniyuzyil.edu.tr:8080/xmlui/handle/20.500.12629/2332
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 consa
dc.description.sponsorshipScientific and Technological Research Council of Turkey (TUBITAK)Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK); Turkish Pediatric Hematology Association
dc.language.isoEnglish
dc.publisherWıley
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.journalPedıatrıc Blood & Cancer
dc.identifier.issue10
dc.identifier.volume66
dc.identifier.doi10.1002/pbc.27923
dc.relation.issue10
dc.relation.volume66


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