机译:FKBP10中的一种新型拼接突变,导致骨质发生缺陷的骨液缺损
Department of Life and Reproduction Sciences Pediatric Clinic University of Verona Italy;
Department of Life and Reproduction Sciences Pediatric Clinic University of Verona Italy;
Department of Internal Medicine - Section D University of Verona Italy;
Department of Life and Reproduction Sciences Pediatric Clinic University of Verona Italy;
Department of Life and Reproduction Sciences Pediatric Clinic University of Verona Italy;
Department of Internal Medicine - Section D University of Verona Italy;
Department of Life and Reproduction Sciences Pediatric Clinic University of Verona Italy;
Department of Life and Reproduction Sciences Pediatric Clinic University of Verona Italy;
Biphosphonate; Bone; COL1A1; Collagen; FKBP10; Fractures;
机译:FKBP10中的一种新型拼接突变,导致骨质发生缺陷的骨液缺损
机译:具有常染色体隐性成骨的中药菌中SerpinF1和FKBP10基因的新型突变
机译:中国成骨患者FKBP10中的新型突变,唑妥酸治疗及其治疗
机译:通过成骨不全症类型鉴定导致骨骼脆弱的NBAS中的新型复合杂合变体
机译:人类遗传疾病的多种机制:COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
机译:FKBP10基因的剪接缺陷导致常染色体隐性成骨不全症:1例
机译:FKBP10基因的剪接缺陷导致常染色体隐性骨质发生渗透性疾病:案例报告