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Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease of the brain caused by mutations in the NOTCH3 receptor. The highly stereotyped nature of the mutations, which alter the number of cysteine residues with...
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| Autors principals: | , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2009
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2685919/ https://ncbi.nlm.nih.gov/pubmed/19293235 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awp049 |
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