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

This publication has 42 references indexed in Scilit:

• 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)
  American Journal of Human Genetics, 2000
• COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS
  American Journal of Human Genetics, 2000
• Redefinition of Exon 7 in the COL1A1 Gene of Type I Collagen by an Intron 8 Splice-Donor–Site Mutation in a Form of Osteogenesis Imperfecta: Influence of Intron Splice Order on Outcome of Splice-Site Mutation
  American Journal of Human Genetics, 1999
• Splicing Defects in the COL3A1 Gene: Marked Preference for 5′ (Donor) Splice-Site Mutations in Patients with Exon-Skipping Mutations and Ehlers-Danlos Syndrome Type IV
  American Journal of Human Genetics, 1997
• COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture
  British Journal of Dermatology, 1996
• Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.
  Journal of Clinical Investigation, 1993
• Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.
  Journal of Clinical Investigation, 1993
• Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.
  Journal of Clinical Investigation, 1990
• Clinical presentations of Ehlers Danlos syndrome type IV.
  Archives of Disease in Childhood, 1988
• Interaction Between Collagen Type I and Type III in Conditioning Bundles Organization
  Connective Tissue Research, 1977