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Article

Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.

The Journal of investigative dermatology - 1 Jun 2005

Urban Zsolt, Gao Jimin, Pope F Michael, Davis Elaine C

Abstract excerpt

Cutis laxa (CL) is a heterogeneous group of genetic and acquired disorders with at least two autosomal dominant forms caused by mutations in the elastin and fibulin-5 genes, respectively. To define the molecular basis of CL in patients negative for point mutations in the elastin gene, metabolic labeling and immunoprecipitation experiments were used to study the synthesis of elastin in dermal fibroblasts. In...

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Identifiers

PMID: 15955094
DOI: 10.1111/j.0022-202X.2005.23758.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.PMID 15955094Read ↗

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