Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency
牛磺酸治疗近亲结婚家族中患有SLC6A6牛磺酸转运蛋白缺乏症的视网膜变性和心肌病
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddz303
Ansar, Muhammad; Ranza, Emmanuelle; Shetty, Madhur; Paracha, Sohail A; Azam, Maleeha; Kern, Ilse; Iwaszkiewicz, Justyna; Farooq, Omer; Pournaras, Constantin J; Malcles, Ariane; Kecik, Mateusz; Rivolta, Carlo; Muzaffar, Waqar; Qurban, Aziz; Ali, Liaqat; Aggoun, Yacine; Santoni, Federico A; Makrythanasis, Periklis; Ahmed, Jawad; Qamar, Raheel; Sarwar, Muhammad T; Henry, L Keith; Antonarakis, Stylianos E