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...

Descripción completa

Detalles Bibliográficos
Autores principales: Lucas, Miguel, Costa, Alzenire F, García-Moreno, José M, Solano, Francisca, Gamero, Miguel A, Izquierdo, Guillermo
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2003
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC184376/
https://www.ncbi.nlm.nih.gov/pubmed/12877753
http://dx.doi.org/10.1186/1471-2377-3-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC184376/
https://www.ncbi.nlm.nih.gov/pubmed/12877753
http://dx.doi.org/10.1186/1471-2377-3-5

Ejemplares similares