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.
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J. R. McMillan | J. Uitto | J. McGrath | A. Christiano | R. Eady | K. Li | A. Christiano | Kehua Li | B. Gatalica | M. Dunnill | J. McGrath | J. McMillan