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Article

Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.

American journal of medical genetics - 28 Aug 1995

Aoyama T, Francke U, Gasner C, Furthmayr H

Abstract excerpt

Marfan syndrome (MFS), a multisystem autosomal-dominant disorder, is characterized by mutations of the fibrillin-1 (FBN1) gene and by abnormal patterns of synthesis, secretion, and matrix deposition of the fibrillin protein. To determine the sensitivity and specificity of fibrillin protein abnorm...

Topics

Cardiovascular Diseases
Connective Tissue Diseases
Electrophoresis
Fibrillin-1
Fibrillins
Fibroblasts
Humans
Marfan Syndrome
Microfilament Proteins
Mutation
Prognosis
Skin
Survival Rate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 8533811
DOI: 10.1002/ajmg.1320580216

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8533811-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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