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Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice
Joubert syndrome is an autosomal recessive disorder characterized by congenital malformation of the cerebellum and brainstem, with abnormal decussation in the brain. Mutations in the Abelson helper integration site 1 gene, which encodes the protein AHI1, have been shown to cause Joubert syndrome. In...
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| Główni autorzy: | , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
American Society for Clinical Investigation
2008
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2467384/ https://ncbi.nlm.nih.gov/pubmed/18636121 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI35339 |
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