Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

समान संसाधन

• Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen
  द्वारा: Nuytinck, Lieve, और अन्य
  प्रकाशित: (2000)
• A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.
  द्वारा: Richards, A J, और अन्य
  प्रकाशित: (1998)
• A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome
  द्वारा: Watanabe, Miki, और अन्य
  प्रकाशित: (2016)
• Compound phenotype of osteogenesis imperfecta and Ehlers–Danlos syndrome caused by combined mutations in COL1A1 and COL5A1
  द्वारा: Lin, Zejia, और अन्य
  प्रकाशित: (2019)
• An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
  द्वारा: Nicholls, A C, और अन्य
  प्रकाशित: (1996)