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机译:由于C.45G> A的非义义突变,Conradi-Hünermann-happle综合征的情况(p.w82 *)
Department of DermatologyFukuoka Children's HospitalFukuoka Japan;
Department of DermatologyFukuoka Children's HospitalFukuoka Japan;
Center for Supercentenarian Medical ResearchKeio University School of MedicineTokyo Japan;
Department of DermatologyKyusyu University Graduate School of MedicineFukuoka Japan;
Department of DermatologyKeio University School of MedicineTokyo Japan;
机译:由于C.45G> A的非义义突变,Conradi-Hünermann-happle综合征的情况(p.w82 *)
机译:Conradi-Hünermann-Happle综合征对Emopamil结合蛋白基因的新型杂合突变,C.333Delc
机译:Emopamil结合蛋白(EBP)基因在康拉姆 - Hünermann-happle综合征的女孩中的Nogo突变
机译:Pro-opid综合征中的LMNA突变
机译:通过无意义的突变调节RNA剪接。
机译:一名Conradi‐Hünermann‐Happle综合征女孩的Emopamil结合蛋白(EBP)基因从头突变
机译:Emopamil结合蛋白(EBP)基因在康拉姆 - Hünermann-happle综合征的女孩中的Nogo突变