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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2011
विषय:
ऑनलाइन पहुंच: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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