Frameshift mutation in N-acetyl-glutamate synthase (NAGS) gene in a consanguineous family: three deceased cases before diagnosis
dc.contributor.author | Sılan, Fatma | |
dc.contributor.author | Karakaya, Taner | |
dc.contributor.author | Bir, Firdevs Dincsoy | |
dc.contributor.author | Paksoy, Baris | |
dc.contributor.author | Özdemir, Öztürk | |
dc.date.accessioned | 2025-01-27T21:07:33Z | |
dc.date.available | 2025-01-27T21:07:33Z | |
dc.date.issued | 2018 | |
dc.department | Çanakkale Onsekiz Mart Üniversitesi | |
dc.description | European Biotechnology Congress -- APR 26-28, 2018 -- Athens, GREECE | |
dc.description.abstract | [Anstract Not Available] | |
dc.identifier.doi | 10.1016/j.jbiotec.2018.06.214 | |
dc.identifier.endpage | S66 | |
dc.identifier.issn | 0168-1656 | |
dc.identifier.issn | 1873-4863 | |
dc.identifier.startpage | S65 | |
dc.identifier.uri | https://doi.org/10.1016/j.jbiotec.2018.06.214 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12428/28103 | |
dc.identifier.volume | 280 | |
dc.identifier.wos | WOS:000454825900211 | |
dc.identifier.wosquality | Q2 | |
dc.indekslendigikaynak | Web of Science | |
dc.language.iso | en | |
dc.publisher | Elsevier Science Bv | |
dc.relation.ispartof | Journal of Biotechnology | |
dc.relation.publicationcategory | Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı | |
dc.rights | info:eu-repo/semantics/closedAccess | |
dc.snmz | KA_WoS_20250125 | |
dc.title | Frameshift mutation in N-acetyl-glutamate synthase (NAGS) gene in a consanguineous family: three deceased cases before diagnosis | |
dc.type | Conference Object |