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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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Main Authors: | , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Public Library of Science
2014
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Assuntos: | |
Acesso em linha: | 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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