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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| 出版年: | Am J Hum Genet |
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| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Elsevier
2002
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| 主題: | |
| オンライン･アクセス: | 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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