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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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Main Authors: Rousseau, Guillaume, Noguchi, Tetsuro, Bourdon, Violaine, Sobol, Hagay, Olschwang, Sylviane
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2011
Teme:
Online dostop: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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