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机译:轻度营养不良表皮细胞分解,与纯合基因突变C.6216 + 5g> T型型VII VII型胶原型超微结构暗示锚固原纤维数量下降
Department of DermatologyKyoto University Graduate School of MedicineKyoto Japan;
Department of DermatologyKyoto University Graduate School of MedicineKyoto Japan;
Department of DermatologyKyoto University Graduate School of MedicineKyoto Japan;
Department of DermatologyHirosaki University Graduate School of MedicineHirosaki Japan;
Department of DermatologyHirosaki University Graduate School of MedicineHirosaki Japan;
Department of DermatologyAsahikawa Medical UniversityAsahikawa Japan;
Department of DermatologyKyoto University Graduate School of MedicineKyoto Japan;
机译:轻度营养不良表皮细胞分解,与纯合基因突变C.6216 + 5g> T型型VII VII型胶原型超微结构暗示锚固原纤维数量下降
机译:新的p.G150R错义突变在VII型胶原的软骨基质蛋白亚结构域中以c.682 + 1G> COL7A1剪接突变导致轻度营养不良性表皮松解性大疱
机译:营养不良性表皮松解性大疱性VII型胶原基因(COL7A1)的异质突变。
机译:隐性营养不良性表皮松解大疱患者的VII型胶原蛋白的调节
机译:在26例普遍性隐性营养不良性大疱性表皮松解症和锚定纤维异常的家族中与VII型胶原蛋白基因(COL7A1)的遗传连锁。
机译:在26例普遍性隐性营养不良性大疱性表皮松解症和锚定纤维异常的家族中,与VII型胶原蛋白基因(COL7A1)的遗传连锁。