Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes

Podobné jednotky

• The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder
  Autor: Muller, J, a další
  Vydáno: (2004)
• Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders
  Autor: Ohno, K, a další
  Vydáno: (2004)
• Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome
  Autor: Ohno, Kinji, a další
  Vydáno: (2002)
• A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome
  Autor: Xing, Guanglin, a další
  Vydáno: (2019)
• Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients
  Autor: Milone, M, a další
  Vydáno: (2009)