Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport
SLC6A6基因变异导致牛磺酸转运受损的患者会出现早发性视网膜病变
期刊:Jama Ophthalmology
影响因子:9.2
doi:10.1001/jamaophthalmol.2025.4875
Ullah, Mukhtar; Rehman, Atta Ur; Shetty, Madhur; Allen, Michael D; Ullah, Ehsan; Signorini, Sabrina G; des Roziers, Cyril Burin; Grijalva, Rosalie M; Rashid, Abdur; Munir, Asad; Porretta, Alessandra Pia; Valente, Enza Maria; Agather, Aime R; Dimopoulos, Ioannis; Hufnagel, Robert B; Malandain, Edouard; Coursimault, Juliette; Ansar, Muhammad; Antonarakis, Stylianos E; Superti-Furga, Andrea; Jan, Sanaullah; Brooks, Brian P; Calzetti, Giacomo; Guan, Bin; Quinodoz, Mathieu; Henry, L Keith; Rivolta, Carlo