Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
Hauke Schumann, Nadja Hammami-Hauasli, Leena Pulkkinen, Alain Mauviel, Wolfgang Küster, Ursula Lüthi, Katsushi Owaribe, Jouni Uitto, Leena Bruckner–Tuderman
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