Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy

Lignende værker

• GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation
  af: Diniz, Gulden, et al.
  Udgivet: (2016)
• Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2
  af: Deng, Hao, et al.
  Udgivet: (2016)
• Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family
  af: Huang, Yanxia, et al.
  Udgivet: (2021)
• A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis
  af: Wu, Yuan, et al.
  Udgivet: (2016)
• Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors
  af: Wu, Yuan, et al.
  Udgivet: (2019)