Effects of epsilon L78P, an acetylcholine receptor mutation that causes slow channel congenital myasthenic syndrome.

Eitemau Tebyg

• Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits.
  gan: Hatton, C, et al.
  Cyhoeddwyd: (2003)
• The defect in a slow channel myasthenic syndrome mutant, epsilon L221F
  gan: Hatton, C, et al.
  Cyhoeddwyd: (2000)
• Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.
  gan: Croxen, R, et al.
  Cyhoeddwyd: (2002)
• Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
  gan: Bonifati, D, et al.
  Cyhoeddwyd: (2004)
• A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family
  gan: Jia-Ze Tan, et al.
  Cyhoeddwyd: (2016-01-01)