Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene

    March 2015 in “ Journal of dermatology ”
    Yasushi Suga, Tatsuya Tsuda, Makoto Nagai … Kiyofumi Yamanishi
    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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    Research cited in this study 1

    1. A Novel Point Mutation of Keratin 17 (KRT17) in a Japanese Family with Pachyonychia Congenita Type 2: An RNA-Based Genetic Analysis Using a Single Hair Bulb British Journal of Dermatology · 2008