Publication: Novel mutation of the electron transferring flavoprotein dehydrogenase (ETFDH) gene in the isolated myopathic form of coenzyme q10 deficiency
dc.contributor.author | Görükmez, O. | |
dc.contributor.author | Görükmez, Orhan | |
dc.contributor.author | Sağ, Şebnem Özemri | |
dc.contributor.author | Erdöl, Şahin | |
dc.contributor.author | Sağlam, Halil | |
dc.contributor.author | Yakut, T. | |
dc.contributor.buuauthor | Görükmez, Orhan | |
dc.contributor.buuauthor | ÖZEMRİ SAĞ, ŞEBNEM | |
dc.contributor.buuauthor | ERDÖL, ŞAHİN | |
dc.contributor.buuauthor | SAĞLAM, HALİL | |
dc.contributor.buuauthor | Yakut, T. | |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Bölümü | |
dc.contributor.orcid | 0000-0002-9241-0896 | |
dc.contributor.orcid | 0000-0002-9241-0896 | |
dc.contributor.orcid | 0000-0002-6598-8262 | |
dc.contributor.researcherid | GLN-8241-2022 | |
dc.contributor.researcherid | AFZ-0764-2022 | |
dc.contributor.researcherid | AAH-8355-2021 | |
dc.contributor.researcherid | C-7392-2019 | |
dc.date.accessioned | 2024-08-12T05:56:09Z | |
dc.date.available | 2024-08-12T05:56:09Z | |
dc.date.issued | 2015-01-01 | |
dc.identifier.endpage | 262 | |
dc.identifier.issn | 1015-8146 | |
dc.identifier.issue | 2 | |
dc.identifier.startpage | 259 | |
dc.identifier.uri | https://hdl.handle.net/11452/43878 | |
dc.identifier.volume | 26 | |
dc.identifier.wos | 000370466000016 | |
dc.indexed.wos | WOS.SCI | |
dc.language.iso | en | |
dc.publisher | Medecine Et Hygiene | |
dc.relation.journal | Genetic Counseling | |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | |
dc.rights | info:eu-repo/semantics/closedAccess | |
dc.subject | Q(10) deficiency | |
dc.subject | Mitochondrial encephalomyopathy | |
dc.subject | Science & technology | |
dc.subject | Life sciences & biomedicine | |
dc.subject | Biotechnology & applied microbiology | |
dc.subject | Genetics & heredity | |
dc.subject | Medical ethics | |
dc.subject | Medicine, research & experimental | |
dc.subject | Biotechnology & applied microbiology | |
dc.subject | Genetics & heredity | |
dc.subject | Medical ethics | |
dc.subject | Research & experimental medicine | |
dc.title | Novel mutation of the electron transferring flavoprotein dehydrogenase (ETFDH) gene in the isolated myopathic form of coenzyme q10 deficiency | |
dc.type | Letter | |
dspace.entity.type | Publication | |
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