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,...

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Detalles Bibliográficos
Autores principales: Muscarella, Lucia Anna, Guarnieri, Vito, Coco, Michelina, Belli, Serena, Parrella, Paola, Pulcrano, Giuseppe, Catapano, Domenico, D'Angelo, Vincenzo A., Zelante, Leopoldo, D'Agruma, Leonardo
Formato: Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2010
Materias:
Research Article
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

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