Article
Investigating diagnostic sequencing techniques for CADASIL diagnosis.
Human genomics - 8 Jan 2020
Dunn P J, Maksemous N, Smith R A, Sutherland H G, Haupt L M, Griffiths L R
Abstract excerpt
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the NOTCH3 gene. Our laboratory has been undertaking genetic diagnostic testing for CADASIL since 1997. Work originally utilised Sanger sequencing methods targeting specific NOTCH3 exons. More recently, next-generation sequencing (NGS)-based technologies...
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