Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.

doi:10.1042/bj3020889

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Article

Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.

The Biochemical journal - 15 Sept 1994

Raghunath M, Kielty C M, Kainulainen K, Child A, Peltonen L, Steinmann B

Abstract excerpt

We studied fibrillin synthesis in cultured fibroblasts from 11 members of a three-generation family with Marfan syndrome, caused by a large in-frame deletion in FBN1 (the fibrillin gene) leading to a loss of 366 bases in the corresponding fibrillin mRNA. Metabolic labelling with [35S]Met/Cys and SDS/PAGE allowed unequivocal identification of normal and truncated fibrillin in all cell strains harbouring the...

Topics

Actin Cytoskeleton
Base Sequence
Cells, Cultured
Egtazic Acid
Electrophoresis, Gel, Pulsed-Field
Female
Fibrillin-1
Fibrillins
Fibroblasts
Fluorescent Antibody Technique
Glycosylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Marfan Syndrome

Microfilament Proteins

Microscopy, Electron

Molecular Sequence Data

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 7945217
DOI: 10.1042/bj3020889
PMCID: PMC1137314

Genes

FBN1
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7945217-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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