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SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

BACKGROUND: Schwannomatosis is a disease characterized by multiple non-vestibular schwannomas. Although biallelic NF2 mutations are found in schwannomas, no germ line event is detected in schwannomatosis patients. In contrast, germline mutations of the SMARCB1 (INI1) tumor suppressor gene were descr...

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Detalles Bibliográficos
Autores principales: Rousseau, Guillaume, Noguchi, Tetsuro, Bourdon, Violaine, Sobol, Hagay, Olschwang, Sylviane
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3037869/
https://www.ncbi.nlm.nih.gov/pubmed/21255467
http://dx.doi.org/10.1186/1471-2377-11-9