Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis

Eur J Dermatol. 2019 Apr 1;29(2):227-228. doi: 10.1684/ejd.2019.3519.

Authors

Keita Takemoto¹, Teruhiko Makino¹, Megumi Mizawa¹, Yoshiaki Kubo², Tadamichi Shimizu¹

Affiliations

¹ Department of Dermatology, Graduate School of Medicine and Pharmaceutical sciences, University of Toyama, Toyama.
² Department of Dermatology, Tokushima University Graduate School of Medical Science, Tokushima, Japan.

PMID: 31106763
DOI: 10.1684/ejd.2019.3519

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Female
Genetic Testing
Humans
Hyperkeratosis, Epidermolytic / diagnosis
Hyperkeratosis, Epidermolytic / genetics*
Keratin-10 / genetics*
Mutation
Severity of Illness Index

Substances

KRT10 protein, human
Keratin-10