The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder

Podobné jednotky

• Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes
  Autor: Richard, P, a další
  Vydáno: (2003)
• A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
  Autor: Thompson, Rachel, a další
  Vydáno: (2018)
• RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position
  Autor: Laura Keehan, a další
  Vydáno: (2025-01-01)
• Therapeutic strategies in congenital myasthenic syndromes
  Autor: Schara, Ulrike, a další
  Vydáno: (2008)
• 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)