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Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly.

Human molecular genetics - 1 Jan 2003

Shultz Leonard D, Lyons Bonnie L, Burzenski Lisa M, Gott Bruce, Samuels Rebecca, Schweitzer Peter A, Dreger Christine, Herrmann Harald, Kalscheuer Vera, Olins Ada L, Olins Donald E, Sperling Karl, Hoffmann Katrin

Abstract excerpt

The nature of the wild-type gene product at the mouse ichthyosis (ic) locus has been of great interest because mutations at this locus cause marked abnormalities in nuclear heterochromatin, similar to those observed in Pelger-Huët anomaly (PHA). We recently found that human PHA is caused by mutations in the gene (LBR) encoding lamin B receptor, an evolutionarily conserved inner nuclear membrane protein involved...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12490533
DOI: 10.1093/hmg/ddg003

Genes

LBR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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