Structure and organization of the human survival motor neurone (SMN) gene.

@article{Brglen1996StructureAO,
  title={Structure and organization of the human survival motor neurone (SMN) gene.},
  author={Lydie B{\"u}rglen and Suzie Lefebvre and Olivier Clermont and Philippe Burlet and Louis Viollet and Corinne Cruaud and Arnold Munnich and Judith Melki},
  journal={Genomics},
  year={1996},
  volume={32 3},
  pages={
          479-82
        }
}
Spinal muscular atrophies (SMA) are characterized by degeneration of the anterior horn cells of the spinal cord and represent the second most common fatal autosomal-recessive disorder after cystic fibrosis. We have previously identified the survival motor neurone gene (SMN), a SMA-determining gene in the 5q13 region encoding a hitherto unknown protein. In this report, we describe the organization and structure of SMN. The gene is approximately equal to 20 kb in length and consists of nine exons… CONTINUE READING
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