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NEURONAL APOTOSE INHIBITOR PROTEIN, GEN SEQUENCE AND MUTATIONS WHICH CAUSE THE MUTUAL MUSCLE ATROPHY
NEURONAL APOTOSE INHIBITOR PROTEIN, GEN SEQUENCE AND MUTATIONS WHICH CAUSE THE MUTUAL MUSCLE ATROPHY
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机译:导致相互肌肉萎缩的神经细胞凋亡抑制蛋白,基因序列和突变
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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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