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Article

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.

The Journal of investigative dermatology - 1 Dec 1994

Kimonis V, DiGiovanna J J, Yang J M, Doyle S Z, Bale S J, Compton J G

Abstract excerpt

Mutations in keratin 9 have been found in families with an epidermolytic form of palmar-plantar keratoderma (PPK). In another form of PPK (Unna-Thost type), epidermolysis is not observed histologically. We studied a pedigree with this non-epidermolytic form of PPK. By gene linkage analysis, the type I keratin locus could be excluded but complete linkage with the type II keratin region was found. Sequence analysis...

Topics

Adult
Amino Acid Sequence
Base Sequence
Female
Gene Amplification
Genetic Linkage
Humans
Keratins
Keratoderma, Palmoplantar
Keratoderma, Palmoplantar, Diffuse
Lysine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Pedigree

Source

Identifiers

PMID: 7528239
DOI: 10.1111/1523-1747.ep12412771

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7528239-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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