Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.

Eitemau Tebyg

• 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)
• Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.
  gan: Chiodo, A A, et al.
  Cyhoeddwyd: (1995)
• A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.
  gan: Lloyd, J, et al.
  Cyhoeddwyd: (1993)
• Compound phenotype of osteogenesis imperfecta and Ehlers–Danlos syndrome caused by combined mutations in COL1A1 and COL5A1
  gan: Lin, Zejia, et al.
  Cyhoeddwyd: (2019)
• Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.
  gan: Schwarze, U, et al.
  Cyhoeddwyd: (1997)