Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

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• Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV
  gan: Schwarze, Ulrike, et al.
  Cyhoeddwyd: (2001)
• Molecular Mechanisms of Classical Ehlers-Danlos Syndrome
  gan: Mitchell, Anna L., et al.
  Cyhoeddwyd: (2009)
• Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome–Related Phenotype
  gan: Park, Arick C., et al.
  Cyhoeddwyd: (2015)
• Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome
  gan: Plancke, Aurélie, et al.
  Cyhoeddwyd: (2009)
• Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.
  gan: Willing, M C, et al.
  Cyhoeddwyd: (1992)