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Article

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

American journal of medical genetics. Part A - 1 Apr 2015

Decio Alice, Tonduti Davide, Pichiecchio Anna, Vetro Annalisa, Ciccone Roberto, Limongelli Ivan, Giorda Roberto, Caffi Lorella, Balottin Umberto, Zuffardi Orsetta, Orcesi Simona

Abstract excerpt

COL4A1 is located in humans on chromosome13q34 and it encodes the alpha 1 chain of type IV collagen, a component of basal membrane. It is expressed mainly in the brain, muscles, kidneys and eyes. Different COL4A1 mutations have been reported in many patients who present a very wide spectrum of clinical symptoms. They typically show a multisystemic phenotype. Here we report on the case of a patient carrying a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25706114
DOI: 10.1002/ajmg.a.36907

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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