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Research Article
Exclusion of the alpha 1(II) collagen structural gene as the mutant locus in type II Ehlers-Danlos syndrome.
  1. P Wordsworth,
  2. D Ogilvie,
  3. R Smith,
  4. B Sykes

    Abstract

    We have used a high frequency site polymorphism within the human pro-alpha 1(II) collagen gene (COL2A1) in order to examine the segregation of this gene within a large pedigree with type II Ehlers-Danlos syndrome (EDS). The EDS gene and the collagen gene segregate independently within the pedigree and therefore COL2A1 can be excluded as the mutant locus.

    https://doi.org/10.1136/ard.44.7.431

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