Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic, hereditary, small vessel disease of the brain causing stroke and vascular dementia in adults. CADASIL has previously been shown to be caused by varying mutations in the NO...

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Detalles Bibliográficos
Autores principales: Maksemous, Neven, Smith, Robert A., Haupt, Larisa M., Griffiths, Lyn R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122195/
https://www.ncbi.nlm.nih.gov/pubmed/27881154
http://dx.doi.org/10.1186/s40246-016-0093-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122195/
https://www.ncbi.nlm.nih.gov/pubmed/27881154
http://dx.doi.org/10.1186/s40246-016-0093-z

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