A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.

Samankaltaisia teoksia

• A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families.
  Tekijä: Burrows, N P, et al.
  Julkaistu: (1998)
• An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
  Tekijä: Nicholls, A C, et al.
  Julkaistu: (1996)
• Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.
  Tekijä: De Paepe, A, et al.
  Julkaistu: (1997)
• Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2
  Tekijä: Ma, Na, et al.
  Julkaistu: (2021)
• Compound phenotype of osteogenesis imperfecta and Ehlers–Danlos syndrome caused by combined mutations in COL1A1 and COL5A1
  Tekijä: Lin, Zejia, et al.
  Julkaistu: (2019)