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Its gene sequence and protein suppression of neuronal apoptosis, and mutation of the gene that causes spinal muscular atrophy

机译:它的基因序列和蛋白质抑制神经元凋亡,以及导致脊髓性肌萎缩的基因突变

摘要

(57) gene of spinal muscular atrophy is a [summary] autosomal recessive neurodegenerative anomaly has been mapped to a region of chromosome 5. From that it codes for a protein having homology with apoptosis inhibitor protein of the virus, the protein encoded, this gene was designated neuronal apoptosis inhibitor protein and (NAIP). There is a deletion in (NAIP) area, patient type I, II, III spinal muscular atrophy (SMA) was observed Shitsuwa missing such a normal, non-SMA population.
机译:(57)脊髓性肌萎缩症的基因是一个常染色体隐性遗传性神经退行性异常,已映射到5号染色体区域。从该基因编码的蛋白与病毒的凋亡抑制剂蛋白具有同源性,该蛋白被编码,该基因被称为神经元凋亡抑制剂蛋白和(NAIP)。在(NAIP)区域存在缺失,观察到I型,II型,III型脊柱肌肉萎缩症(SMA)患者Shitsuwa缺少了这种正常的非SMA人群。

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