Identification of Intragenic Deletions and Duplication in the FLCN Gene in Birt-Hogg-Dubé Syndrome

Birt-Hogg-Dubé syndrome(BHDS), caused by germline mutations in the folliculin (FLCN) gene, predisposes individuals to develop fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces and kidney cancer. The FLCN mutation detection rate by bidirectional DNA sequencing in the National Cancer Inst...

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Hauptverfasser: Benhammou, Jihane N., Vocke, Cathy D., Santani, Avni, Schmidt, Laura S., Baba, Masaya, Seyama, Kuniaki, Wu, Xiaolin, Korolevich, Susana, Nathanson, Katherine L., Stolle, Catherine A., Linehan, W. Marston
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3075348/
https://ncbi.nlm.nih.gov/pubmed/21412933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/gcc.20872
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