Krit1 Missense Mutations Lead to Splicing Errors in Cerebral Cavernous Malformation
At least 40% of families affected with cerebral cavernous malformation have a mutation in Krit1. We previously identified two point mutations in Krit1 leading to changes in amino acids (D137G and Q210E) in two different families. Further RNA analysis reveals that both point mutations actually activa...
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| Publicado no: | Am J Hum Genet |
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| Principais autores: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2002
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC379143/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11941540/ https://ncbi.nlm.nih.govhttps://doi.org/10.1086/340604 |
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