Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family

Lignende værker

• Mutations in the Norrie disease gene: a new mutation in a Japanese family.
  af: Isashiki, Y, et al.
  Udgivet: (1995)
• A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease
  af: Liu, Deyuan, et al.
  Udgivet: (2010)
• α-Secretase nonsense mutation (ADAM10 Tyr167*) in familial Alzheimer’s disease
  af: Agüero, Pablo, et al.
  Udgivet: (2020)
• Deep intronic GPR143 mutation in a Japanese family with ocular albinism
  af: Naruto, Takuya, et al.
  Udgivet: (2015)
• Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy
  af: Jia, Li-Yun, et al.
  Udgivet: (2021)