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Mutation of the gene that causes the suppression protein and its gene sequence, as well as spinal muscular atrophy of neuronal apoptosis
Mutation of the gene that causes the suppression protein and its gene sequence, as well as spinal muscular atrophy of neuronal apoptosis
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机译:导致抑制蛋白的基因突变及其基因序列,以及神经元凋亡的脊髓性肌萎缩
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摘要
The gene for autosomal recessive neurodegenerative disorder Spinal Muscular Atrophy has been mapped to a region of chromosome 5. The gene encodes a protein having homology with apoptosis inhibitor proteins of viruses so that the encoded protein has been labelled as a neuronal apoptosis inhibitor protein (NAIP). A deletion in the (NAIP) domain was identified in persons with Type I, II and III Spinal Muscular Atrophy (SMA) and not in the normal non-SMA population.
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