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

Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.

Clinical genetics - 1 May 2010

Chao S-C, Chen J-S, Tsai C-H, Lin Jy-M, Lin Y-J, Sun H S

Abstract excerpt

The fibrillin-1 gene (FBN1) mutations are associated with a broad spectrum of disorders including Marfan syndrome (MFS) and show great clinical heterogeneity. An underrepresentation for mutations leading to premature termination codon (PTC) in FBN1 exons 24-32 was found in neonatal or severe MFS but the underlying cause was unclear. This study thoroughly examined two FBN1 mutations on exons 24-32 region to...

Read the complete abstract on PubMed

Topics

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

Share to Fatal Outcome
Share to Fibrillin-1
Share to Fibrillins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intracellular Space

Share to Leupeptins

Share to Marfan Syndrome

Share to RNA Splice Sites

Share to RNA Stability

Source

Identifiers

PMID: 20132243
DOI: 10.1111/j.1399-0004.2009.01337.x

Genes

FBN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.PMID 20132243Read ↗

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.Semantic proximity Read ↗

Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.Semantic proximity Read ↗

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.Semantic proximity Read ↗

Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report.Semantic proximity Read ↗

Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome.Semantic proximity Read ↗

Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.Semantic proximity Read ↗

A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome.Semantic proximity Read ↗

FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review.Semantic proximity Read ↗

AnFBN1Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?Semantic proximity Read ↗

Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia.Semantic proximity Read ↗

Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related DisordersSemantic proximity Read ↗

Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome.Semantic proximity Read ↗

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