Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
TMEM216 上游单个非编码核苷酸的替换会导致非综合征性视网膜色素变性,并与 TMEM216 表达降低有关
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.07.020
Samantha Malka, Pooja Biswas, Anne-Marie Berry, Riccardo Sangermano, Mukhtar Ullah, Siying Lin, Matteo D'Antonio, Aleksandr Jestin, Xiaodong Jiao, Mathieu Quinodoz, Lori Sullivan, Jessica C Gardner, Emily M Place, Michel Michaelides, Karolina Kaminska, Omar A Mahroo, Elena Schiff, Genevieve Wright,