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Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease
NHLRC2 (NHL repeat-containing protein 2) is an essential protein. Mutations of NHLRC2, including Asp148Tyr, have been recently associated with a novel FINCA disease (fibrosis, neurodegeneration, cerebral angiomatosis), which is fatal in early childhood. To gain insight into the mechanisms of action...
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| Publicado no: | PLoS One |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6107167/ https://ncbi.nlm.nih.gov/pubmed/30138417 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0202391 |
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