Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

Eitemau Tebyg

• A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.
  gan: Ars, E, et al.
  Cyhoeddwyd: (1998)
• Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.
  gan: Serra, E, et al.
  Cyhoeddwyd: (1997)
• Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA
  gan: Ars, Elisabet, et al.
  Cyhoeddwyd: (2000)
• Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.
  gan: Lázaro, C, et al.
  Cyhoeddwyd: (1995)
• Independent NF1 mutations in two large families with spinal neurofibromatosis
  gan: Messiaen, L, et al.
  Cyhoeddwyd: (2003)