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

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

American journal of medical genetics. Part A - 15 Dec 2008

Hoffman Guy G, Dodson Gerald E, Cole William G, Greenspan Daniel 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 Alleles
Share to Collagen Type V
Share to DNA Mutational Analysis
Share to Ehlers-Danlos Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Identifiers

PMID: 19012342
DOI: 10.1002/ajmg.a.32586

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Absence of apparent disease causing mutations in COL5A3 in 13 patients with hypermobility Ehlers-Danlos syndrome.PMID 19012342Read ↗

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

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

Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype.Semantic proximity Read ↗

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

Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene.Semantic proximity Read ↗

A novel insertion mutation in COL7A1 identified in Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Genetic testing for the diagnosis and classification of joint hypermobility: a case report of 15 patientsSemantic proximity Read ↗

A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.Semantic proximity Read ↗

Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.Semantic proximity Read ↗

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibilitySemantic proximity Read ↗

COL4A1 gene mutation--beyond a vascular syndrome.Semantic proximity Read ↗

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