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Potential New Cysteine Sparing Mutation in the NOTCH3 Gene in a Patient with Nonfamilial CADASIL-like Disease

BACKGROUND: Several different mutations have been reported in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We present a unique case with transversion not involving cysteine on neurogenic locus notch homolog protein 3 gene. CASE D...

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Vydáno v:J Vasc Interv Neurol
Hlavní autoři: Qureshi, Adnan I., Khan, Muhammad T., Naveed, Omer, Saleem, Muhammad A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Zeenat Qureshi Stroke Research Center 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5805898/
https://ncbi.nlm.nih.gov/pubmed/29445441
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