...
机译:与线粒体乙酰乙酰基-COA硫酶(T2)缺乏相关的ACAT1 ACAT1变体的突变更新
Department of Pediatrics Graduate School of MedicineGifu UniversityGifu Japan;
Department of BiochemistryAlbert Einstein College of MedicineNew York New York;
Department of PediatricsShimane University School of MedicineIzumo Japan;
Biocenter Oulu and FBMMUniversity of OuluOulu Finland;
Department of Pediatrics Graduate School of MedicineGifu UniversityGifu Japan;
ACAT1; genotype‐phenotype correlation; mutations; structure; T2‐deficiency; variants; β‐ketothiolase deficiency;
机译:与线粒体乙酰乙酰基-COA硫酶(T2)缺乏相关的ACAT1 ACAT1变体的突变更新
机译:线粒体乙酰乙酰辅酶A硫解酶(T2)缺乏症患者的人类ACAT1基因MLPA的开发和杂合Alu介导的外显子3和4缺失的鉴定。
机译:线粒体乙酰乙酰基-COA硫酶酶酶缺乏在9个月大的男孩:非典型尿代谢概况与ACAT1基因的新纯合突变
机译:与线粒体乙酰乙酰辅酶A硫解酶(T2)缺乏症相关的ACAT1变异的突变更新
机译:具有3-酮磷酸酶缺乏的七个家庭的生化和免疫化学研究:使用免疫化学法测定线粒体乙酰乙酰-CoA硫酶和3-酮酰基-CoA硫酶蛋白比例的杂合子的诊断