A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family

Gelijkaardige items

• Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family
  door: Wang, Xiran, et al.
  Gepubliceerd in: (2015)
• Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta
  door: Zhang, Hao, et al.
  Gepubliceerd in: (2017)
• Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family
  door: Shi, Xianlong, et al.
  Gepubliceerd in: (2015)
• A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family
  door: Yaxin Han, et al.
  Gepubliceerd in: (2020-09-01)
• A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family
  door: Han, Yaxin, et al.
  Gepubliceerd in: (2020)