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Article

A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens.

The Journal of investigative dermatology - 1 Mar 1999

Arin M J, Longley M A, Epstein E H, Scott G, Goldsmith L A, Rothnagel J A, Roop D R

Abstract excerpt

Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant skin disorder with clinical features similar to epidermolytic hyperkeratosis (EHK). Both diseases have been linked to the type II keratin cluster on chromosome 12q. Hyperkeratosis and blister formation are relatively mild in IBS compared with EHK, and the lysis of keratinocytes is restricted to the upper spinous and granular layers of the epidermis...

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Identifiers

PMID: 10084318
DOI: 10.1046/j.1523-1747.1999.00529.x

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A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens.PMID 10084318Read ↗

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.Semantic proximity Read ↗

Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literatureSemantic proximity Read ↗

Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens.Semantic proximity Read ↗

Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene.Semantic proximity Read ↗

A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens.Semantic proximity Read ↗

Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens.Semantic proximity Read ↗

An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.Semantic proximity Read ↗

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The keratins and their disorders.Semantic proximity Read ↗

Heterozygosity for a Novel Missense Mutation in the ITGB4 Gene Associated With Autosomal Dominant Epidermolysis Bullosa.Semantic proximity Read ↗

In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: a genotype-phenotype correlation.Semantic proximity Read ↗

Ichthyosis bullosa of Siemens: further delineation of the phenotype.Semantic proximity Read ↗

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