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This prospective multicenter cohort study aims to define the clinical, radiological and mutational spectrum of the disease related to COL4A1 gene.
150 index patients (children or young adult) and 100 relatives will be prospectively recruited over three years according to eligibility criteria. Clinical, brain MRI-MRA and genetic testing (COL4A1 mutation screening) will be conducted for each included patient or asymptomatic relatives. 13 French investigating centres will be participating to the study.
Observational Model: Case Control, Time Perspective: Cross-Sectional
COL4A1 genetic testing
Hôpital LARIBOISIERE Neurology Department
Assistance Publique - Hôpitaux de Paris
Published on BioPortfolio: 2014-08-27T03:14:50-0400
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