A Glutamate to Lysine Mutation at the End of 2B Rod Domain of Keratin 2e Gene in Ichthyosis Bullosa of Siemens.
DOI:
https://doi.org/10.1080/000155598442683Abstract
Ichthyosis bullosa of Siemens is a rare autosomal dominant skin disorder whose clinical findings are quite similar to those of epidermolytic hyperkeratosis. The differences between those two diseases include absence of erythroderma and different distributions in the skin in ichthyosis bullosa of Siemens. Recent studies have confirmed that ichthyosis bullosa of Siemens is caused by the mutation in the keratin 2e (K2e) gene;which is expressed in the upper spinous and granular layers. We have identified a sporadic case of ichthyosis bullosa of SiemensDownloads
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Published
1998-12-02
How to Cite
Yang, J., Lee, E., Kang, H., Choi, G., Yoneda, K., Jung, S., … Lee, E. (1998). A Glutamate to Lysine Mutation at the End of 2B Rod Domain of Keratin 2e Gene in Ichthyosis Bullosa of Siemens. Acta Dermato-Venereologica, 78(6), 417–419. https://doi.org/10.1080/000155598442683
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