Research Paper: 

2010 Rouaud

Date Published : 

08/24/2010

Summary

ACUTE URINARY RETENTION DUE TO A NOVEL COLLAGEN COL4A1 MUTATION

Excerpt

The gene COL4A1 encodes the a1 chain of type IV collagen, a basement-membrane protein implying vascular parietal strength. Mutations in the gene COL4A1 have been described in families with diffuse small-vessel disease of the brain, resulting in perinatal stroke, congenital porencephaly, extensive leukoen-cephalopathy, intracerebral hemorrhage, and retinal arteriolar tortuosity.1-4 Our observation extends the clinical and magnetic resonance (MR) phenotype of COL4A1 mutation.

ACUTE URINARY RETENTION DUE TO A NOVEL COLLAGEN COL4A1 MUTATION
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