Investigating diagnostic sequencing techniques for CADASIL diagnosis

Investigating diagnostic sequencing techniques for CADASIL diagnosis

Abstract 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 San...

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Bibliographic Details
Main Authors: P. J. Dunn, N. Maksemous, R. A. Smith, H. G. Sutherland, L. M. Haupt, L. R. Griffiths
Format: Article
Language:English
Published: BMC 2020-01-01
Series:Human Genomics
Subjects:
CADASIL
NOTCH3
Cerebral small vessel disease
Diagnostic testing
Online Access:https://doi.org/10.1186/s40246-019-0255-x

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