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机译:利用RNA和异常分析分析,以识别AP4S1 AP4S1中的内部剪接改变变体,其伴侣对痉挛性痉挛截瘫
Department of Translational GenomicsUniversity of Southern CaliforniaLos Angeles California;
Center for Rare Childhood Disorders Neurogenomics DivisionTranslational Genomics Research;
Center for Rare Childhood Disorders Neurogenomics DivisionTranslational Genomics Research;
Center for Rare Childhood Disorders Neurogenomics DivisionTranslational Genomics Research;
Center for Rare Childhood Disorders Neurogenomics DivisionTranslational Genomics Research;
Center for Rare Childhood Disorders Neurogenomics DivisionTranslational Genomics Research;
Department of Pediatrics Larner College of MedicineUniversity of VermontBurlington Vermont;
Center for Rare Childhood Disorders Neurogenomics DivisionTranslational Genomics Research;
Center for Rare Childhood Disorders Neurogenomics DivisionTranslational Genomics Research;
Center for Rare Childhood Disorders Neurogenomics DivisionTranslational Genomics Research;
Department of Translational GenomicsUniversity of Southern CaliforniaLos Angeles California;
AP‐4 deficiency syndrome; AP4S1; intronic variant; spastic paraplegia type 52; splicing;
机译:利用RNA和异常分析分析,以识别AP4S1 AP4S1中的内部剪接改变变体,其伴侣对痉挛性痉挛截瘫
机译:斑马鱼中AP4S1的损失导致类似痉挛性截瘫52的神经发育缺陷
机译:AP4S1的隐性功能丧失突变通过丧失AP-4复合体装配导致轻度发烧敏感性癫痫发作,发育延迟和痉挛性截瘫
机译:替代剪接的结构基因组学分析及其在替代剪接变体结构建模中的应用
机译:mRNA剪接变体的单细胞分析
机译:AP4S1剪接位点突变在痉挛性截瘫52型伴多小细胞增多症的情况下
机译:AP4S1中的隐性功能突变引起通过AP-4复杂组件的损失引起轻度发热敏感性癫痫发作,发育延迟和痉挛性截瘫