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Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene
BACKGROUND: Cerebral cavernous malformations (CCM) present as either sporadic or autosomal dominant conditions with incomplete penetrance of symptoms. Differences in genetic and environmental factors might be minimized among first-degree relatives. We therefore studied clinical expression in a famil...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2003
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC184376/ https://ncbi.nlm.nih.gov/pubmed/12877753 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-3-5 |
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