Frameshift mutation in N-acetyl-glutamate synthase (NAGS) gene in a consanguineous family: three deceased cases before diagnosis

Sılan, FatmaKarakaya, TanerBir, Firdevs DincsoyPaksoy, BarisÖzdemir, Öztürk2025-01-272025-01-2720180168-16561873-4863https://doi.org/10.1016/j.jbiotec.2018.06.214https://hdl.handle.net/20.500.12428/28103European Biotechnology Congress -- APR 26-28, 2018 -- Athens, GREECE[Anstract Not Available]eninfo:eu-repo/semantics/closedAccessFrameshift mutation in N-acetyl-glutamate synthase (NAGS) gene in a consanguineous family: three deceased cases before diagnosisConference Object280S65S6610.1016/j.jbiotec.2018.06.214Q2WOS:000454825900211