Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Elucidation of the gene defect in Marfan syndrome. Success by two complementary research strategies.

FEBS letters - 27 Jul 1992

Peltonen L, Kainulainen K

Abstract excerpt

Marfan syndrome, which is characterized by manifestations in the skeletal, ocular and cardiovascular systems, is one of the most common inherited connective-tissue disorders. The independently performed genetic assignment of the Marfan locus and classical biochemical and immunohistochemical analyses complemented each other in the search for the Marfan gene defect and in 1991 the fibrillin gene in chromosome 15...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Linkage
Share to Marfan Syndrome
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Phenotype

Source

Identifiers

PMID: 1639186
DOI: 10.1016/0014-5793(92)80913-2

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Elucidation of the gene defect in Marfan syndrome. Success by two complementary research strategies.PMID 1639186Read ↗

The molecular basis of Marfan syndrome.Semantic proximity Read ↗

Molecular genetics of Marfan syndrome.Semantic proximity Read ↗

Clinical and genetic associations in Marfan syndrome and related disorders.Semantic proximity Read ↗

[The research progress in Marfan syndrome].Semantic proximity Read ↗

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.Semantic proximity Read ↗

[Contribution of genetics to pathogenicity and diagnosis of Marfan syndrome].Semantic proximity Read ↗

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.Semantic proximity Read ↗

[Genetic aspects of Marfan syndrome].Semantic proximity Read ↗

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.Semantic proximity Read ↗

Recent developments in the diagnosis of Marfan syndrome and related disorders.Semantic proximity Read ↗

Location on Chromosome 15 of the Gene Defect Causing Marfan SyndromeSemantic proximity Read ↗

An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.