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Article

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.

Human molecular genetics - 1 Jan 1995

Dietz H C, Pyeritz R E

Abstract excerpt

The extracellular microfibril, 10-14 nm in diameter, performs a number of functions, including serving as the scaffolding for deposition of tropoelastin to form elastic fibers. A variety of proteins compose the structure of microfibrils, the most prominent of which are the two fibrillins. Fibrillin-1 is encoded by FBN1 on human chromosome 15q21 and fibrillin-2 is encoded by FBN2 on 5q23. Each fibrillin monomer...

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Source

Identifiers

PMID: 8541880
DOI: 10.1093/hmg/4.suppl_1.1799

Genes

FBN1
FBN2

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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