Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome

Autor: Norouzi Rostami, Fatemeh, Sadeghi, Hossein, Hashemi-Gorji, Farzad, Tehrani Fateh, Sahand, Mirfakhraie, Reza, Karimzadeh, Parvaneh, Davarpanah, Milad, Jamshidi, Sanaz, Madannejad, Rasoul, Moghimi, Parinaz, Ekrami, Mahdis, Miryounesi, Mohammad, Ghasemi, Mohammad-Reza
Zdroj: In Heliyon 30 March 2024 10(6)
Databáze: ScienceDirect