Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome-Reference-Cited by-同舟云学术

Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome

Published:2011-03-15 Issue:6 Volume:50 Page:466-477
ISSN:1045-2257
Container-title:Genes, Chromosomes and Cancer
language:en
Short-container-title:Genes Chromosom. Cancer

Author:

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

Publisher

Wiley

Subject

Cancer Research,Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/gcc.20872/fullpdf

Reference36 articles.

1. Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: Detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer;Ahvenainen;Cancer Genet Cytogenet,2008

2. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling;Baba;Proc Natl Acad Sci USA,2006

3. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons;Birt;Arch Dermatol,1977

4. The nonsense-mediated decay RNA surveillance pathway;Chang;Annu Rev Biochem,2007

5. Acrochordons are not a component of the Birt-Hogg-Dube syndrome: Does this syndrome exist? Case reports and review of the literature;De La Torre;Am J Dermatopathol,1999

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