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COL6s

Pathology

- COL6A1 (ch. 21)- collagen 6A1 gene

  • variations in ossification of the posterior longitudinal ligament (OPLL) of the spine (#12958705#)
  • germline mutations in Ullrich congenital muscular dystrophy (#12840783#)

- COL6A2 : mutations in Ullrich congenital muscular dystrophy COL6A3 : mutations in Ullrich congenital muscular dystrophy