Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome

Documents similaires

• Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
  par: Bonifati, D, et autres
  Publié: (2004)
• Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.
  par: Croxen, R, et autres
  Publié: (2002)
• Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
  par: Webster, R, et autres
  Publié: (2004)
• Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
  par: Beeson, D, et autres
  Publié: (2003)
• End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
  par: Croxen, R, et autres
  Publié: (2001)