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Birt-Hogg-Dubé syndrome: Report of a new mutation
Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis caused by germline mutations in the folliculin gene and characterized by facial papules, pulmonary cysts, kidney tumours and recurrent pneumothoraces. Several distinct mutations in the folliculin gene resulting in a truncated protein ha...
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| 第一著者: | |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Pulsus Group Inc
2012
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3418093/ https://ncbi.nlm.nih.gov/pubmed/22679611 |
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