Generation and genetic repair of two human induced pluripotent cell lines from patients with Epidermolysis Bullosa simplex and dilated cardiomyopathy associated with a heterozygous mutation in the translation initiation codon of KLHL24
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Abstract
Fibroblasts from two patients carrying a heterozygous mutation in the translation initiation codon (c.2 T > G) of the kelch-like protein 24 (KLHL24) gene were used to
generate human induced pluripote...
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Veronika Ramovs, Ignacia Fuentes, Christian Freund, Harald Mikkers, Christine L. Mummery, Karine Raymond, Generation and genetic repair of two human induced pluripotent cell lines from patients with Epidermolysis Bullosa simplex and dilated cardiomyopathy associated with a heterozygous mutation in the translation initiation codon of KLHL24, Stem Cell Research, Volume 57, 2021, 102582, ISSN 1873-5061, https://doi.org/10.1016/j.scr.2021.102582.
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