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A Novel Cysteine-Sparing NOTCH3 Mutation in a Chinese Family with CADASIL
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult onset cerebral small vessel disorder caused by the mutations of the neurogenic locus notch homolog protein 3 (NOTCH3) gene. The extracellular part of NOTCH3 is composed of 34 epidermal gr...
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| Hlavní autoři: | , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Public Library of Science
2014
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4123979/ https://ncbi.nlm.nih.gov/pubmed/25098330 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0104533 |
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