Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations

Ижил төстэй зүйлс

• Correlation between polymorphisms in the AChR gamma and delta subunit promoters and clinical phenotype in AChR deficiency patients
  -н: Bonifati, D, зэрэг
  Хэвлэсэн: (2004)
• Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.
  -н: Croxen, R, зэрэг
  Хэвлэсэн: (2002)
• End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
  -н: Croxen, R, зэрэг
  Хэвлэсэн: (2001)
• AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.
  -н: Faber, C, зэрэг
  Хэвлэсэн: (2009)
• Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
  -н: Croxen, R, зэрэг
  Хэвлэсэн: (2000)