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Article

An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease.

Journal of human genetics - 1 Jan 2008

Guo Dong-Chuan, Gupta Prateek, Tran-Fadulu Van, Guidry Tera V, Leduc Magalie S, Schaefer Frederick V, Milewicz Dianna M

Abstract excerpt

Marfan syndrome (MFS) results from heterozygous mutations in FBN1. However, genetic analyses of deoxyribonucleic acid (DNA) from approximately 10-30% of MFS patients who meet diagnostic criteria do not reveal an identifiable FBN1 mutation. In a patient who met the diagnostic criteria for MFS, bidirectional DNA sequencing of exons and intron-exon boundaries of FBN1 failed to reveal a mutation. Assessment of the...

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Identifiers

PMID: 18795226
DOI: 10.1007/s10038-008-0334-7

Genes

FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease.PMID 18795226Read ↗

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