C - Chemistry – Metallurgy – 12 – N
Patent
C - Chemistry, Metallurgy
12
N
C12N 15/12 (2006.01) C07H 21/04 (2006.01) C07K 7/08 (2006.01) C07K 14/47 (2006.01) C12Q 1/68 (2006.01)
Patent
CA 2138425
The gene for the 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.
Ikeda Joh-E
Korneluk Robert G.
Mackenzie Alex E.
Mahadevan Mani S.
Mclean Michael
Research Development Corporation Of Japan
Sim & Mcburney
Universite D'ottawa - University Of Ottawa
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