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  • Molecular assay reagents intended to identify mutations in the collagen type IV alpha 1 (COL4A1) gene, located at chromosome 13q34, which encodes type IV collagen alpha-1 chain. Genetic variants at this locus have been associated with familial porencephaly; hereditary angiopathy with nephropathy, aneurysms, and muscle cramps; brain small vessel disease with hemorrhage; tortuosity of retinal arteries; and susceptibility to intracerebral hemorrhage.
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