survival motor neuron (SMN) gene

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Introduction

duplicated within the 5q13 region; telomeric copy present in 100% of individuals, centromeric copy present in 95.5%. lacking in 213/229 or interrupted in 13/229 SMA patients.

More general terms

Additional terms

References

  1. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995 Jan 13;80(1):155-65. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7813012