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Pediatric dermatology  (2019)

Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation=> Genotype-phenotype correlation and in silico modeling analysis.

Lalor, Leah; Titeux, Matthias; Palisson, Francis; Fuentes, Ignacia; Yubero, María J; Tasanen, Kaisa; Huilaja, Laura; Has, Cristina; Tadini, Gianluca; Haggstrom, Anita N; Hovnanian, Alain; Lucky, Anne W