Basit öğe kaydını göster

Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?

dc.contributor.authorSatman, Ilhan
dc.contributor.authorUzum, Ayse Kubat
dc.contributor.authorPalanduz, Sukru
dc.contributor.authorCefle, Kivanc
dc.contributor.authorAvci, Hakan
dc.contributor.authorTekin, Sakin
dc.contributor.authorTiryakioglu, N. Ozan
dc.contributor.authorCoskunpinar, Ender
dc.contributor.authorTanakol, Refik
dc.date.accessioned2021-03-06T12:31:13Z
dc.date.available2021-03-06T12:31:13Z
dc.date.issued2018
dc.identifier.citationCoskunpinar E., Tekin S., Palanduz S., Avci H., Cefle K., Tiryakioglu N. O. , Uzum A. K. , Tanakol R., Satman I., "Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?", BEZMIALEM SCIENCE, cilt.6, ss.126-129, 2018
dc.identifier.othervv_1032021
dc.identifier.otherav_f4385d83-07b8-4a26-bb6d-7cc8d0b5cc16
dc.identifier.urihttp://hdl.handle.net/20.500.12627/160123
dc.identifier.urihttps://doi.org/10.14235/bs.2018.1840
dc.description.abstractObjective: A 35-year-old Turkish male patient was referred to us with a year-long history of joint paint and congenital hearing loss. Family history revealed more family members with hearing loss without paraneoplastic syndrome. These findings led us to investigate the genetic alterations associated with familial hypophosphatemia, which revealed an ENPP1 mutation.
dc.language.isoeng
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectTemel Tıp Bilimleri
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectTIP, GENEL & İÇECEK
dc.titleCould the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?
dc.typeMakale
dc.relation.journalBEZMIALEM SCIENCE
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume6
dc.identifier.issue2
dc.identifier.startpage126
dc.identifier.endpage129
dc.contributor.firstauthorID252256


Bu öğenin dosyaları:

DosyalarBoyutBiçimGöster

Bu öğe ile ilişkili dosya yok.

Bu öğe aşağıdaki koleksiyon(lar)da görünmektedir.

Basit öğe kaydını göster