Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL

OBJECTIVE: To determine the frequency of distinctive EGFr cysteine altering NOTCH3 mutations in the 60,706 exomes of the exome aggregation consortium (ExAC) database. METHODS: ExAC was queried for mutations distinctive for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoe...

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Detaylı Bibliyografya
Yayımlandı:Ann Clin Transl Neurol
Asıl Yazarlar: Rutten, Julie W., Dauwerse, Hans G., Gravesteijn, Gido, van Belzen, Martine J., van der Grond, Jeroen, Polke, James M., Bernal‐Quiros, Manuel, Lesnik Oberstein, Saskia A. J.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2016
Konular:
Research Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5099530/
https://ncbi.nlm.nih.gov/pubmed/27844030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.344
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