The importance of the nuclear background on the phenotypic signature caused by the MELAS m.1630 A>G variant

Lignende værker

• The nuclear background influences the penetrance of the near-homoplasmic m.1630 A>G MELAS variant in a symptomatic proband and asymptomatic mother
  af: Uittenbogaard, Martine, et al.
  Udgivet: (2019)
• Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant
  af: Gropman, Andrea, et al.
  Udgivet: (2018)
• Genetic background and phenotypic heterogeneity of MELAS and maternally inherited diabetes and deafness
  af: Finsterer, Josef, et al.
  Udgivet: (2015)
• Gastrointestinal Involvement in m.3243A>G-associated MELAS
  af: Finsterer, Josef, et al.
  Udgivet: (2017)
• Pathogenicity of the m.1630A > G variant remains elusive if related mutation carriers with similar heteroplasmy rates are asymptomatic
  af: Finsterer, Josef
  Udgivet: (2019)