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

COL4A1 gene mutation--beyond a vascular syndrome.

Seizure - 1 Sept 2015

John Seby, Jehi Lara, Manno Edward M, Conway Devon S, Uchino Ken

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 Brain
Share to Cerebrovascular Disorders
Share to Collagen Type IV
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Seizures

Share to Status Epilepticus

Source

Identifiers

PMID: 26362372
DOI: 10.1016/j.seizure.2015.06.014

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

COL4A1 gene mutation--beyond a vascular syndrome.PMID 26362372Read ↗

Late diagnosis of COL4A1 mutation and problematic vascular risk factor management.Semantic proximity Read ↗

A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant.Semantic proximity Read ↗

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome11See Editorial by Monnens, p. 799Semantic proximity Read ↗

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Semantic proximity Read ↗

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humansSemantic proximity Read ↗

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.Semantic proximity Read ↗

Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly.Semantic proximity Read ↗

An Italian family carrying a new mutation in the COL4A1 gene.Semantic proximity Read ↗

Novel COL5A1 mutation in a Chinese family with classic type of 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 ↗

Alport Syndrome: A Comprehensive Review on Genetics, Pathophysiology, Histology, Clinical and Therapeutic Perspectives.Semantic proximity Read ↗

COL4A1 mutation revealed by an isolated brain hemorrhage.Semantic proximity Read ↗

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