The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness

Những quyển sách tương tự

• Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant
  Bằng: Gill, Jaidip S, et al.
  Được phát hành: (2017)
• The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant
  Bằng: Alston, Charlotte L., et al.
  Được phát hành: (2020)
• Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy
  Bằng: Taylor, R, et al.
  Được phát hành: (2003)
• A national perspective on prenatal testing for mitochondrial disease
  Bằng: Nesbitt, Victoria, et al.
  Được phát hành: (2014)
• Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.
  Bằng: Estivill, X, et al.
  Được phát hành: (1998)