Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa

    June 1997 in “ The American Journal of Human Genetics ”
    Hauke Schumann, Nadja Hammami-Hauasli, Leena Pulkkinen … Leena Bruckner–Tuderman
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