dc.contributor.author | Ayhan, Ozgecan | |
dc.contributor.author | Gokcay, Gülden Fatma | |
dc.contributor.author | Basbogaoglu, Nurdan | |
dc.contributor.author | TOLUN, ASLIHAN | |
dc.contributor.author | KARA, BÜLENT | |
dc.date.accessioned | 2021-03-02T22:54:19Z | |
dc.date.available | 2021-03-02T22:54:19Z | |
dc.identifier.citation | KARA B., Ayhan O., Gokcay G. F. , Basbogaoglu N., TOLUN A., "Adult phenotype and further phenotypic variability in SRD5A3-CDG.", BMC medical genetics, cilt.15, ss.10, 2014 | |
dc.identifier.issn | 1471-2350 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_0f5f45a6-fb0e-4af5-a8fb-efecf3a556ca | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/15871 | |
dc.identifier.uri | https://doi.org/10.1186/1471-2350-15-10 | |
dc.description.abstract | Background: SRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder of glycosylation, and mutations have been reported in 15 children. All the mutations are recessive and truncating. | |
dc.language.iso | eng | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Tıp | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | GENETİK VE HAYAT | |
dc.title | Adult phenotype and further phenotypic variability in SRD5A3-CDG. | |
dc.type | Makale | |
dc.relation.journal | BMC medical genetics | |
dc.contributor.department | Kocaeli Üniversitesi , Tıp Fakültesi , Çocuk Sağlığı Ve Hastalıkları | |
dc.identifier.volume | 15 | |
dc.identifier.startpage | 10 | |
dc.identifier.endpage | 10 | |
dc.contributor.firstauthorID | 212749 | |