A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation - Vermeer, Mathilde C.S.C.; Al‐Shinnag, Mohammad; Silljé, Herman H.W.; Gaytan, Antonio Esquivel; Murrell, Dedee F.; McGaughran, Julie; Melbourne, Wei; Cowan, Timothy; Akker, Peter C.; Spaendonck‐Zwarts, Karin Y.; Meer, Peter; Bolling, Maria C. (British journal of dermatology (1951), 2022)
Keywords: Cardiomyopathy; Cardiomyopathy, Dilated - genetics; Codon, Initiator; Dilated cardiomyopathy; Epidermolysis bullosa; Epidermolysis Bullosa Simplex - genetics; Humans; Intermediate Filaments; Mutation - genetics; Nucleotides; Phenotype; Phenotypes; Repressor Proteins - genetics; Research Letter; Research Letters; Translation initiation