A case of epidermolysis bullosa simplex with a newly found missense mutation and polymorphism in the highly conserved helix termination motif among type I keratins, which was previously reported as a pathogenic missense mutation
Titel:
A case of epidermolysis bullosa simplex with a newly found missense mutation and polymorphism in the highly conserved helix termination motif among type I keratins, which was previously reported as a pathogenic missense mutation
Auteur:
H attori, N. K omine, M. K aneko, T. S himazu, K. T sunemi, Y. K oizumi, M. G oto, J. H ashimoto, T.