The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation

פריטים דומים

• Stability of the m.8993T→G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome
  מאת: Steffann, J, et al.
  יצא לאור: (2007)
• Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.
  מאת: Tatuch, Y, et al.
  יצא לאור: (1992)
• Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes.
  מאת: Blok, R B, et al.
  יצא לאור: (1997)
• De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
  מאת: Takahashi, S, et al.
  יצא לאור: (1998)
• Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA
  מאת: Sgarbi, Gianluca, et al.
  יצא לאור: (2006)