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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Ge, Wei, Kuang, Hanzhe, Wei, Bin, Bo, Le, Xu, Zhice, Xu, Xingshun, Geng, Deqin, Sun, Miao
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2014
Aiheet:
Linkit: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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