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机译:Oculopharyngeal肌肉萎缩症和继承视网膜营养不良在布哈拉犹太人由于联系在一起PABPN1和海军基因突变
Tel Aviv Sourasky Med Ctr, Dept Ophthalmol, Tel Aviv, Israel;
Tenon Hosp, Dept Otolaryngol Head & Neck Surg, Paris, France;
Technion, Rappaport Fac Med, POB 9649, IL-31096 Haifa, IsraelHillel Yaffe Med Ctr, Dept Ophthalmol, Hadera, IsraelHillel Yaffe Med Ctr, Head & Neck Surg Unit, Otolaryngol, Hadera, IsraelEmek Med Ctr, Genet Inst, Afula, Israel;
PABPN1 gene; Retinal Dystrophies; NRL geneoculopharyngeal muscular dystrophyJews;
机译:The TREaT-NmD DmD global database: analysis of more than 7,000 duchenne muscular dystrophy mutations