Novel and Recurring < b > < i > NOTCH3 < /i > < /b > Mutations in Two Chinese Patients with CADASIL
Conclusions: We identified 2NOTCH3 mutations as likely genetic causes for CADASIL in these 2 patients. Our findings broaden the mutational spectrum of theNOTCH3 gene accountable for CADASIL. Clinical manifestations supplemented with molecular genetic analyses are critical for accurate diagnosis, the provision of genetic counseling, and the development of therapies for CADASIL.Neurodegener Dis
Source: Neurodegenerative Diseases - Category: Neurology Source Type: research