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...
Kaydedildi:
| Yayımlandı: | BMC Neurol |
|---|---|
| Asıl Yazarlar: | , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMC
2003
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC184376/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12877753/ https://ncbi.nlm.nih.govhttps://doi.org/10.1186/1471-2377-3-5 |
| Etiketler: |
Etiket eklenmemiş, İlk siz ekleyin!
|