Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene

    March 2015 in “ Journal of dermatology
    Yasushi Suga, Tatsuya Tsuda, Makoto Nagai, Yoshiko Sakaguchi, Orie Jitsukawa, Masaaki Yamamoto, Kiyotaka Hitomi, Kiyofumi Yamanishi
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    Studysummary This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
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