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Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas

Neurofibromatosis 2 (NF2) is a severe autosomal dominant disorder that predisposes to multiple tumours of the nervous system. About half of all patients are founders with clinically unaffected parents. The purpose of the present study was to examine the extent to which mosaicism is present in NF2 fo...

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書誌詳細
主要な著者: Kluwe, L, Mautner, V, Heinrich, B, Dezube, R, Jacoby, L, Friedrich, R, MacCollin, M
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2003
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735360/
https://ncbi.nlm.nih.gov/pubmed/12566519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.40.2.109
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