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Article

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations.

Nature reviews. Genetics - 1 Mar 2009

Bateman John F, Boot-Handford Raymond P, Lamandé Shireen R

Abstract excerpt

Tissue-specific extracellular matrices (ECMs) are crucial for normal development and tissue function, and mutations in ECM genes result in a wide range of serious inherited connective tissue disorders. Mutations cause ECM dysfunction by combinations of two mechanisms. First, secretion of the muta...

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PMID: 19204719
DOI: 10.1038/nrg2520

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19204719-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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