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

The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome.

Clinical genetics - 1 Apr 2018

Alzahrani F, Alkeraye S, Alkuraya F S

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Child
Share to Collagen Type V
Share to Ehlers-Danlos Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 29250776
DOI: 10.1111/cge.13131

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome.PMID 29250776Read ↗

Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome.Semantic proximity Read ↗

A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.Semantic proximity Read ↗

Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2.Semantic proximity Read ↗

Absence of apparent disease causing mutations in COL5A3 in 13 patients with hypermobility Ehlers-Danlos syndrome.Semantic proximity Read ↗

Skipped exon in COL7A1 determines the clinical phenotypes of dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.Semantic proximity Read ↗

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.Semantic proximity Read ↗

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.Semantic proximity Read ↗

A novel deep intronic COL5A1 variant in an Ehlers-Danlos syndrome family: functional characterization by minigene assay.Semantic proximity Read ↗

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.Semantic proximity Read ↗

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.Semantic proximity Read ↗

Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.Semantic proximity Read ↗

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