机译:在泰国血管突变的两个姐妹中,罕见的P k K表型由B3GalnT1 B3Galnt1基因座的新型非本文突变引起的罕见p k k表型
Division of Hematology and Transfusion Medicine Department of Laboratory MedicineLund;
Division of Hematology and Transfusion Medicine Department of Laboratory MedicineLund;
Division of Hematology and Transfusion Medicine Department of Laboratory MedicineLund;
Clinical Immunology and Transfusion Medicine Division of Laboratory Medicine Office of Medical;
Division of Hematology and Transfusion Medicine Department of Laboratory MedicineLund;
Department of Transfusion Medicine Faculty of Medicine Siriraj HospitalMahidol UniversityBangkok;
Department of Transfusion Medicine Faculty of Medicine Siriraj HospitalMahidol UniversityBangkok;
Division of Hematology and Transfusion Medicine Department of Laboratory MedicineLund;
anti‐P; B3GALNT1; glycosyltransferase; miscarriage; P k phenotype;
机译:在泰国血管突变的两个姐妹中,罕见的P k K表型由B3GalnT1 B3Galnt1基因座的新型非本文突变引起的罕见p k k表型
机译:复合的杂合子SLC26A2突变导致两个巴西姐妹的知更鸟序列,轻度四肢短小,加速腕骨骨化和多发性骨physi发育不良。新的介于中间型表型与隐性多发性骨epi发育不良之间的中间表型
机译:致癌突变在多种来源的果蝇组织中产生相似的表型致癌突变在多种来源的果蝇组织中产生相似的表型致癌突变在多种来源的果蝇组织中产生类似的表型
机译:由于HPER2和CKI DELTA基因座的突变而改变了PPI,导致ASPS
机译:罕见CFTR错义突变的功能研究有助于解释基因型与表型的关系。
机译:CEP290亚型无义突变引起的一种罕见的视网膜营养不良
机译:CEp290中一种罕见形式的视网膜营养不良引起的畸形无义突变