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Gene Review

SPSMA  -  scapuloperoneal spinal muscular atrophy,...

Homo sapiens

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Disease relevance of SPSMA


High impact information on SPSMA


  1. Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. Isozumi, K., DeLong, R., Kaplan, J., Deng, H.X., Iqbal, Z., Hung, W.Y., Wilhelmsen, K.C., Hentati, A., Pericak-Vance, M.A., Siddique, T. Hum. Mol. Genet. (1996) [Pubmed]
  2. Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation. Isozumi, K., DeLong, R., Kaplan, J., Hung, W.Y., Siddique, T. Hum. Genet. (1997) [Pubmed]
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