Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family

Autor: Suzuki-Ajihara, Sayaka, Saito-Tsuruoka, Megumi, Harashima, Hiroko, Arai, Katsumi, Koide, Hiroyoshi, Yatsuka, Yukiko, Imai-Okazaki, Atsuko, Okazaki, Yasushi, Murayama, Kei, Numakura, Chikahiko, Akioka, Yuko, Ohtake, Akira
Zdroj: In Molecular Genetics and Metabolism Reports June 2023 35
Databáze: ScienceDirect