A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL
Journal - Neurology
Cerebral autosomal dominant arteriopathy with subcortical infarctsand leukoencephalopathy (CADASIL) is a hereditary cerebrovasculardisease leading to accumulating neurologic deficits and dementia.CADASIL has been linked to nucleotide substitutions and deletionsin the Notch3 gene. All the mutations described until now leadto unpaired cysteine residue in the epidermal growth factor-likerepeats. The authors report a family with CADASIL carrying adeletion in the Notch3 gene that did not involve a cysteineresidue.
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