Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis

Lignende værker

• Missense mutations to the TSC1 gene cause tuberous sclerosis complex
  af: Nellist, Mark, et al.
  Udgivet: (2009)
• Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex
  af: Nellist, Mark, et al.
  Udgivet: (2008)
• Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients
  af: van den Ouweland, Ans M W, et al.
  Udgivet: (2011)
• Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
  af: Mozaffari, Melika, et al.
  Udgivet: (2009)
• Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant
  af: Živčić-Ćosić, Stela, et al.
  Udgivet: (2017)