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Article

Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of italian families with Marfan syndrome.

Human heredity - 1 Jan 2000

Mottes M, Mirandola S, Rigatelli F, Zolezzi F, Lisi V, Gordon D, Pignatti P F

Abstract excerpt

The fibrillin gene (FBN1) is the disease locus for Marfan syndrome. This disorder shows a high degree of clinical and allelic heterogeneity. Direct mutation screening has proven difficult and inefficient and at present cannot be utilized for routine analysis. In familial cases linkage analysis represents a useful tool for molecular diagnosis. We have determined the allelic frequencies of 5 polymorphic markers...

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Source

Identifiers

PMID: 10686496
DOI: 10.1159/000022910

Genes

FBN1

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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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