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Forschungsdatenbank PMU-SQQUID

COL17A1 editing via homology-directed repair in junctional epidermolysis bullosa.
Petković, I; Bischof, J; Kocher, T; March, OP; Liemberger, B; Hainzl, S; Strunk, D; Raninger, AM; Binder, HM; Reichelt, J; Guttmann-Gruber, C; Wally, V; Piñón Hofbauer, J; Bauer, JW; Koller, U;
Front Med (Lausanne). 2022; 9: 976604
Originalarbeiten (Zeitschrift)


Bauer Johann
Binder Heide-Marie
Bischof Johannes
Guttmann-Gruber Christina
Hainzl Stefan
Kocher Thomas
Koller Ulrich
Liemberger Bernadette
March Oliver
Petkovic Igor
Pinon Hofbauer Josefina
Raninger Anna
Reichelt Julia
Strunk Dirk
Wally Verena


Epidermolysis bullosa (EB), a severe genetic disorder characterized by blister formation in skin, is caused by mutations in genes encoding dermal-epidermal junction proteins that function to hold the skin layers together. CRISPR/Cas9-induced homology-directed repair (HDR) represents a promising tool for editing causal mutations in COL17A1 in the treatment of junctional epidermolysis bullosa (JEB).

Find related publications in this database (Keywords)

gene editing
homology-directed repair (HDR)
junctional epidermolysis bullosa (JEB)
gene therapy