Neuronal apoptosis inhibitor protein gene sequence and mutations causative of spinal muscular atrophy
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United States of America Patent
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Aug 6, 2002
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Jan 28, 2000
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Oct 18, 1994
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Abstract
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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