A Novel Asparagine→Aspartic Acid Mutation in the Rod 1A Domain in Keratin 2e in a Japanese Family with Ichthyosis Bullosa of Siemens
- 1 January 2000
- journal article
- case report
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 114 (1) , 193-195
- https://doi.org/10.1046/j.1523-1747.2000.00817.x
Abstract
No abstract availableKeywords
Funding Information
- Ministry of Education, Culture, Sports, Science and Technology
This publication has 19 references indexed in Scilit:
- Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literatureBritish Journal of Dermatology, 1999
- A Novel Mutation in the 1A Domain of Keratin 2e in Ichthyosis Bullosa of SiemensJournal of Investigative Dermatology, 1999
- A New Keratin 2e Mutation in Ichthyosis Bullosa of SiemensJournal of Investigative Dermatology, 1997
- Human keratin diseases:Experimental Dermatology, 1996
- Ichthyosis Bullosa of Siemens Is Caused by Mutations in the Keratin 2e GeneJournal of Investigative Dermatology, 1994
- Ichthyosis Bullosa of Siemens–A Disease Involving Keratin 2eJournal of Investigative Dermatology, 1994
- Mutations in the Rod 1A Domain of Keratins 1 and 10 in Bullous Congenital Ichthyosiform Erythoderma (BCIE)Journal of Investigative Dermatology, 1994
- Mutations in the H1 and 1A Domains in the Keratin 1 Gene in Epidermolytic HyperkeratosisJournal of Investigative Dermatology, 1994
- Ichthyosis bullosa of Siemens: A unique type of epidermolytic hyperkeratosisPublished by Elsevier ,1986
- Dichtung und Wahrheit über die „Ichthyosis bullosa“, mit Bemerkungen zur Systematik der EpidermolysenArchives of Dermatological Research, 1937