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
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斯高帕斯(Scopus)