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Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR
Cerebral cavernous malformations (CCMs) represent a common autosomal dominant disorder that predisposes patients to haemorrhagic strokes and focal neurological signs. About 56% of the hereditary forms of CCMs have been so far associated with mutations in the KRIT1 (Krev Interaction Trapped 1) gene,...
Autores principales: | , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2926733/ https://www.ncbi.nlm.nih.gov/pubmed/20798775 http://dx.doi.org/10.1155/2010/854737 |