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Article

Lamellar ichthyosis is genetically heterogeneous--cases with normal keratinocyte transglutaminase.

The Journal of investigative dermatology - 1 Nov 1995

Huber M, Rettler I, Bernasconi K, Wyss M, Hohl D

Abstract excerpt

We recently identified mutations of the keratinocyte transglutaminase gene as a cause of lamellar ichthyosis. In this study we analyzed two sporadic cases of lamellar ichthyosis. Transglutaminase activity measured in membrane extracts from cultured differentiating keratinocytes was within the range observed in normal individuals. Western blot and Northern blot analysis revealed normal size and quantities of...

Topics

Genetic Heterogeneity
Humans
Ichthyosis, Lamellar
Infant, Newborn
Keratinocytes
Mutation
Pedigree
RNA, Messenger
Reference Values
Transglutaminases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7594637
DOI: 10.1111/1523-1747.ep12324122

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7594637-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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