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

Benzer Materyaller

• 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.
  Yazar:: Burrows, N P, ve diğerleri
  Baskı/Yayın Bilgisi: (1998)
• An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
  Yazar:: Nicholls, A C, ve diğerleri
  Baskı/Yayın Bilgisi: (1996)
• Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.
  Yazar:: De Paepe, A, ve diğerleri
  Baskı/Yayın Bilgisi: (1997)
• Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2
  Yazar:: Ma, Na, ve diğerleri
  Baskı/Yayın Bilgisi: (2021)
• Compound phenotype of osteogenesis imperfecta and Ehlers–Danlos syndrome caused by combined mutations in COL1A1 and COL5A1
  Yazar:: Lin, Zejia, ve diğerleri
  Baskı/Yayın Bilgisi: (2019)