A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex

Antzeko izenburuak

• Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis
  nork: Astrinidis, A., et al.
  Argitaratua: (2000)
• Missense mutations to the TSC1 gene cause tuberous sclerosis complex
  nork: Nellist, Mark, et al.
  Argitaratua: (2009)
• Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
  nork: Au, K S, et al.
  Argitaratua: (1998)
• Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis
  nork: Carsillo, Thomas, et al.
  Argitaratua: (2000)
• Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
  nork: Mozaffari, Melika, et al.
  Argitaratua: (2009)