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dc.contributor.authorChou, Janet
dc.contributor.authorTahir-Turanli, Eda
dc.contributor.authorStafstrom, Kelsey
dc.contributor.authorBainter, Wayne
dc.contributor.authorAktay-Ayaz, Nuray
dc.contributor.authorGeha, Raif S.
dc.contributor.authorCakan, Mustafa
dc.contributor.authorKaradag, Serife Gul
dc.date.accessioned2021-03-05T19:23:26Z
dc.date.available2021-03-05T19:23:26Z
dc.date.issued2019
dc.identifier.citationCakan M., Aktay-Ayaz N., Karadag S. G. , Tahir-Turanli E., Stafstrom K., Bainter W., Geha R. S. , Chou J., "Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2", TURKISH JOURNAL OF PEDIATRICS, cilt.61, ss.413-417, 2019
dc.identifier.issn0041-4301
dc.identifier.othervv_1032021
dc.identifier.otherav_cf0aedef-03d6-456f-82c5-f7404d479bb8
dc.identifier.urihttp://hdl.handle.net/20.500.12627/136928
dc.identifier.urihttps://doi.org/10.24953/turkjped.2019.03.014
dc.description.abstractDeficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder caused by mutations in CECR1 (cat eye syndrome chromosome region, canditate 1) gene, which encodes the enzyme adenosine deaminase 2 necessary for endothelial cell survival and function.
dc.language.isoeng
dc.subjectPEDİATRİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectTıp
dc.titleAtypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2
dc.typeMakale
dc.relation.journalTURKISH JOURNAL OF PEDIATRICS
dc.contributor.departmentIstanbul Kanuni Sultan Suleyman Training & Research Hospital , ,
dc.identifier.volume61
dc.identifier.issue3
dc.identifier.startpage413
dc.identifier.endpage417
dc.contributor.firstauthorID838331


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