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

مواد مشابهة

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