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FLCN: the causative gene for Birt-Hogg-Dubé syndrome

Germline mutations in the novel tumor suppressor gene FLCN are responsible for the autosomal dominant inherited disorder Birt-Hogg-Dubé (BHD) syndrome that predisposes to fibrofolliculomas, lung cysts and spontaneous pneumothorax, and an increased risk for developing kidney tumors. Although the enco...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Gene
Prif Awduron: Schmidt, Laura S., Linehan, W. Marston
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2017
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5682220/
https://ncbi.nlm.nih.gov/pubmed/28970150
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2017.09.044
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