An Italian family carrying a new mutation in the COL4A1 gene

Journal article

Peer reviewed

A Russo, A.M Pinto, D Lopergolo, A Renieri and C Battisti

Journal of the neurological sciences, Vol.414, pp.116815-116815

07/15/2020

DOI: 10.1016/j.jns.2020.116815

PMID: 32335342

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Case report

Stroke

Epilepsy

Headache

Small vessel disease

COL4A1 gene

Leukoencephalopathy

Fundus oculi

Title: Subtitle: An Italian family carrying a new mutation in the COL4A1 gene
Creators: A Russo - Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy
A.M Pinto - Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy
D Lopergolo - Medical Genetics, University of Siena, Siena, Italy
A Renieri - Medical Genetics, University of Siena, Siena, Italy
C Battisti - Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy
Resource Type: Journal article
Publication Details: Journal of the neurological sciences, Vol.414, pp.116815-116815
DOI: 10.1016/j.jns.2020.116815
PMID: 32335342
NLM abbreviation: J Neurol Sci
ISSN: 0022-510X
eISSN: 1878-5883
Publisher: Elsevier B.V
Language: English
Date published: 07/15/2020
Academic Unit: Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute; Craniofacial Anomalies Research Center
Record Identifier: 9984072069202771

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