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.

@article{Burrows1998APM,
  title={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.},
  author={Nigel Peter Burrows and Angus Nicholls and Allan James Richards and Craig Luccarini and John Buckley Harrison and John R. Yates and F. M. Pope},
  journal={American journal of human genetics},
  year={1998},
  volume={63 2},
  pages={
          390-8
        }
}
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective-tissue disorders characterized by skin fragility, joint laxity, and skeletal deformities. Type V collagen appears to have a causal role in EDS types I and II, which show phenotypic overlap and may sometimes be allelic. Type V collagen can exist as a heterotrimer, [alpha1(V)]2alpha2(V), and it both coassembles with and regulates type I collagen-fibril diameter. Using an intragenic COL5A1 polymorphism, we have demonstrated… CONTINUE READING
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