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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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Détails bibliographiques
Auteurs principaux: Rousseau, Guillaume, Noguchi, Tetsuro, Bourdon, Violaine, Sobol, Hagay, Olschwang, Sylviane
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2011
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3037869/
https://ncbi.nlm.nih.gov/pubmed/21255467
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-11-9
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