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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Detaylı Bibliyografya
Yayımlandı:Hum Genomics
Asıl Yazarlar: Maksemous, Neven, Smith, Robert A., Haupt, Larisa M., Griffiths, Lyn R.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2016
Konular:
Primary Research
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5122195/
https://ncbi.nlm.nih.gov/pubmed/27881154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-016-0093-z
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