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Article

A novel mutation of the fibrillin gene causing ectopia lentis.

Genomics - 1 Feb 1994

Lönnqvist L, Child A, Kainulainen K, Davidson R, Puhakka L, Peltonen L

Abstract excerpt

Ectopia lentis (EL), a dominantly inherited connective tissue disorder, has been genetically linked to the fibrillin gene on chromosome 15 (FBN1) in earlier studies. Here, we report the first EL mutation in the FBN1 gene confirming that EL is caused by mutations of this gene. So far, several muta...

Topics

Amino Acid Sequence
Base Sequence
Chromosomes, Human, Pair 15
DNA Mutational Analysis
Ectopia Lentis
Female
Fibrillin-1
Fibrillins
Genes
Humans
Male
Marfan Syndrome
Microfilament Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Pedigree

Phenotype

Point Mutation

Source

Identifiers

PMID: 8188302
DOI: 10.1006/geno.1994.1110

Genes

FBN1
EGF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8188302-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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