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Prenatal diagnosis of the spinal muscular atrophy type I using genetic information from archival slides and paraffin-embedded tissues

Choi SK, Cho EH, Kim JW, Park SY, Kim YM, Ryu HM, Kang IS, Jun JY, Chi HG

  • KMID: 1540014
  • J Genet Med.
  • 1998 Dec;2(2):53-57.
Spinal muscular atrophy (SMA) type I is a common severe autosomal recessive inherited neuromuscular disorder that has been mapped to chromosome 5q11.2-13.3. The survival motor neuron (SMN) gene, a candidate...
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