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Autor:
Jang-Ku Park, Eil-Soo Lee, Hyong-Cheol Kim, Jeung-Hoon Lee, KK Wu, Kiebang Nam, Peter M. Steinert, Jum-Mo Yang
Publikováno v:
Journal of Investigative Dermatology. 112:376-379
We report a mutation in a mild case of epidermolytic hyperkeratosis that results in a glutamic acid to aspartic acid substitution in a novel location, codon 477 or position 106 of the 2B rod domain of the keratin 1 chain. This residue has been conser