Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition

  • John A. McGrath
  • , Biljana Gatalica
  • , Kehua Li
  • , M. Giles S. Dunnill
  • , James R. McMillan
  • , Angela M. Christiano
  • , Robin A.J. Eady
  • , Jouni Uitto

Research output: Contribution to journal › Article › peer-review

103   Link opens in a new tab Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology