Basit öğe kaydını göster

A novel ATP8 gene mutation in an infant with tetralogy of Fallot

dc.contributor.authorUstek, Duran
dc.contributor.authorPacal, Ferda
dc.contributor.authorTansel, Türkan
dc.date.accessioned2021-03-05T09:35:38Z
dc.date.available2021-03-05T09:35:38Z
dc.date.issued2014
dc.identifier.citationTansel T., Pacal F., Ustek D., "A novel ATP8 gene mutation in an infant with tetralogy of Fallot", CARDIOLOGY IN THE YOUNG, cilt.24, ss.531-533, 2014
dc.identifier.issn1047-9511
dc.identifier.otherav_9e9755f4-1b34-470f-accc-1f9857fb0627
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/106501
dc.identifier.urihttps://doi.org/10.1017/s1047951113000668
dc.description.abstractWe report the case of a novel mitochondrial DNA mutation in the MT-ATP8 gene in an infant with tetralogy of Fallot. Next-generation sequencing was applied to sequence whole mitochondrial DNA of the patient. A known Leber's hereditary optic neuropathy-associated mutation (G9804A), a heteroplasmic T7501C mutation (17%), and a novel C8481 T Pro > Leu missense mutation in the MT-ATP8 gene was identified.
dc.language.isoeng
dc.subjectKardiyoloji
dc.subjectTıp
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectPEDİATRİ
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectCARDIAC ve CARDIOVASCULAR SİSTEMLER
dc.titleA novel ATP8 gene mutation in an infant with tetralogy of Fallot
dc.typeMakale
dc.relation.journalCARDIOLOGY IN THE YOUNG
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume24
dc.identifier.issue3
dc.identifier.startpage531
dc.identifier.endpage533
dc.contributor.firstauthorID101640


Bu öğenin dosyaları:

DosyalarBoyutBiçimGöster

Bu öğe ile ilişkili dosya yok.

Bu öğe aşağıdaki koleksiyon(lar)da görünmektedir.

Basit öğe kaydını göster