Basit öğe kaydını göster

The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis

dc.contributor.authorYÜKSEL, Selcuk
dc.contributor.authorGÖKÇE, Ibrahim
dc.contributor.authorGURGOZE, Metin Kaya
dc.contributor.authorAKINCI, Nurver
dc.contributor.authorBASKIN, Esra
dc.contributor.authorSERDAROĞLU, Erkin
dc.contributor.authorKILIC, Beltinge Demircioglu
dc.contributor.authorTOPALOĞLU, REZAN
dc.contributor.authorCanpolat, Nur
dc.contributor.authorYilmaz, Alev
dc.contributor.authorÖZALTIN, Fatih
dc.contributor.authorHAYRAN, Mutlu
dc.contributor.authorKORKMAZ, Emine
dc.contributor.authorHACIHAMDIOGLU, Duygu Ovunc
dc.contributor.authorINOZU, Mihriban
dc.contributor.authorGÜLHAN, Bora
dc.contributor.authorNOYAN, Aytul
dc.contributor.authorDURSUN, Ismail
dc.date.accessioned2021-03-06T12:47:27Z
dc.date.available2021-03-06T12:47:27Z
dc.date.issued2017
dc.identifier.citationTOPALOĞLU R., GÜLHAN B., INOZU M., Canpolat N., Yilmaz A., NOYAN A., DURSUN I., GÖKÇE I., GURGOZE M. K. , AKINCI N., et al., "The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis", CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, cilt.12, ss.1634-1641, 2017
dc.identifier.issn1555-9041
dc.identifier.othervv_1032021
dc.identifier.otherav_f58fb0bc-bbbd-4bf9-8a81-f6aedacc1f5b
dc.identifier.urihttp://hdl.handle.net/20.500.12627/160938
dc.identifier.urihttps://doi.org/10.2215/cjn.00180117
dc.description.abstractBackground and objectives Infantile nephropathic cystinosis is a severe disease that occurs due to mutations in the cystinosis gene, and it is characterized by progressive dysfunction of multiple organs; >100 cystinosis gene mutations have been identified in multiple populations. Our study aimed to identify the clinical characteristics and spectrum of cystinosis gene mutations in Turkish pediatric patients with cystinosis.
dc.language.isoeng
dc.subjectTıp
dc.subjectÜROLOJİ VE NEFROLOJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.subjectNefroloji
dc.titleThe Clinical and Mutational Spectrum of Turkish Patients with Cystinosis
dc.typeMakale
dc.relation.journalCLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
dc.contributor.department, ,
dc.identifier.volume12
dc.identifier.issue10
dc.identifier.startpage1634
dc.identifier.endpage1641
dc.contributor.firstauthorID91323


Bu öğenin dosyaları:

DosyalarBoyutBiçimGöster

Bu öğe ile ilişkili dosya yok.

Bu öğe aşağıdaki koleksiyon(lar)da görünmektedir.

Basit öğe kaydını göster