Article
A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens.
The Journal of investigative dermatology - 1 Jan 2000
Takizawa Y, Akiyama M, Nagashima M, Shimizu H
Abstract excerpt
Ichthyosis bullosa of Siemens is a unique type of congenital ichthyosis characterized by mild hyperkeratosis over the flexural areas and blister formation after mechanical trauma and superficial denuded areas in the hyperkeratotic skin. Recently, mutations in the helix initiation or termination motifs of keratin 2e (KRT2E) have been described in ichthyosis bullosa of Siemens patients. The majority of the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.