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Article

Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.

The Journal of clinical investigation - 1 Jan 1992

Milewicz D M, Pyeritz R E, Crawford E S, Byers P H

Abstract excerpt

We studied the synthesis, secretion, and aggregation into the extracellular matrix of fibrillin by dermal fibroblasts from 26 probands with the Marfan syndrome. Cells from seven probands synthesized approximately half the normal amount of fibrillin when compared with intrafamilial or unrelated co...

Topics

Adolescent
Adult
Cells, Cultured
Child
Child, Preschool
Extracellular Matrix
Female
Fibrillins
Fibroblasts
Genetic Variation
Humans
Infant
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Marfan Syndrome

Microfilament Proteins

Mutation

Phenotype

Protein Processing, Post-Translational

Source

Open in PubMed Open full text

Identifiers

PMID: 1729284
DOI: 10.1172/JCI115589
PMCID: PMC442822

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1729284-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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