Investigating diagnostic sequencing techniques for CADASIL diagnosis

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 seque...

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Detalles Bibliográficos
Autores principales: Dunn, P. J., Maksemous, N., Smith, R. A., Sutherland, H. G., Haupt, L. M., Griffiths, L. R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950909/
https://www.ncbi.nlm.nih.gov/pubmed/31915071
http://dx.doi.org/10.1186/s40246-019-0255-x

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