Clinical utility gene card for: Tuberous sclerosis complex (TSC1, TSC2)

Samankaltaisia teoksia

• Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex
  Tekijä: Nellist, Mark, et al.
  Julkaistu: (2008)
• Missense mutations to the TSC1 gene cause tuberous sclerosis complex
  Tekijä: Nellist, Mark, et al.
  Julkaistu: (2009)
• Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients
  Tekijä: van den Ouweland, Ans M W, et al.
  Julkaistu: (2011)
• Identification of Regions Critical for the Integrity of the TSC1-TSC2-TBC1D7 Complex
  Tekijä: Santiago Lima, Arthur Jorge, et al.
  Julkaistu: (2014)
• Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
  Tekijä: Mozaffari, Melika, et al.
  Julkaistu: (2009)