Mustafa ÖZDEMİR, Şerif HAMİTOĞLU, Ferda ÖZLÜ, Hacer YAPICIOĞLU, Gülen GÜL MERT, Mehmet SATAR

7706G˃A missense mutasyonuna sahip ilk yaşayan yenidoğan olgusu: Alpers-Huttenlocher sendromu

The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome

Cukurova Medical Journal

2022-Cilt: 47 - Sayı: 4

1780-1783

Alpers-Huttenlocher sendromu, Nöronal dejenerasyon, Karaciğer hastalığı, Yeni nesil sekanslama, Hepatopati

Alpers-Huttenlocher syndrome, Neuronal degeneration, Liver disease, Next-generation sequencing, Hepatopathy

7147