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

Antzeko izenburuak

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