L Bonafe

Summary

Affiliation: Centre Hospitalier Universitaire Vaudois
Country: Switzerland

Publications

  1. ncbi request reprint A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village
    L Bonafe
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Clin Genet 64:28-35. 2003
  2. ncbi request reprint Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci
    P Y Jeannet
    Neuropediatrics Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland
    Neuromuscul Disord 17:6-12. 2007

Collaborators

  • T Kuntzer
  • P Y Jeannet
  • J A Lobrinus
  • L Mittaz
  • M Dunand

Detail Information

Publications2

  1. ncbi request reprint A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village
    L Bonafe
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Clin Genet 64:28-35. 2003
    ....
  2. ncbi request reprint Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci
    P Y Jeannet
    Neuropediatrics Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland
    Neuromuscul Disord 17:6-12. 2007
    ..No linkage to the five known nemaline myopathy genes (alpha-tropomyosin-3, nebulin, alpha-actin, troponin T1 and beta-tropomyosin), to the ryanodine receptor gene (associated with core-rod myopathy) or to the 15q21-23 locus was found...