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
- ↑ 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