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机译:PGAP3 PGAP3 PGAP3 - 精神迟滞综合征的相关高渗综合征:10名新患者的报告和纯合创始人突变
Medical Molecular Genetics Department Human Genetics and Genome Research DivisionNational Research;
Clinical Genetics Department Human Genetics and Genome Research DivisionNational Research;
Clinical Genetics Department Human Genetics and Genome Research DivisionNational Research;
Medical Molecular Genetics Department Human Genetics and Genome Research DivisionNational Research;
Child Health Department Medical Research DivisionNational Research CentreCairo Egypt;
Clinical Genetics Department Human Genetics and Genome Research DivisionNational Research;
founder mutation; glycosylphosphatidylinositol; hyperphosphatasia; Mabry syndrome; mental retardation; PGAP3 gene;
机译:PGAP3 PGAP3 PGAP3 - 精神迟滞综合征的相关高渗综合征:10名新患者的报告和纯合创始人突变
机译:PGAP3的突变会损害GPI锚的成熟,导致具有精神发育迟滞的高磷性亚型
机译:与超磷脂染症相关的猪基因中的突变和术语综合征:案例报告
机译:新加坡巴鲁达综合征患者SCN5A基因突变的谱
机译:脆性X综合征智力低下相关基因重复扩增突变和蛋白质亚细胞定位现象的微观分析。
机译:罕见的非编码突变扩展了患有精神发育迟缓综合征的高磷血症PGAP3亚型的突变谱。
机译:罕见非编码突变延长精神发育迟滞综合征的高磷酸盐pGap3亚型的突变谱