Detection of 1733insC mutations in an Asian family with Birt-Hogg-Dubé syndrome
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2004.06283.x/fullpdf
Reference12 articles.
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2. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome;Nickerson;Cancer Cell,2002
3. Clinical and genetic studies of Birt-Hogg-Dube syndrome;Khoo;J Med Genet,2002
4. Heterogenous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/CpNpG motifs;Rodenhiser;Oncogene,1996
5. Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the neurofibromatosis type 1 (NF1) tumor-suppressor gene;Rodenhiser;Mutat Res,1997
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2. Pathology of Birt-Hogg-Dubé syndrome: A special reference of pulmonary manifestations in a Japanese population with a comprehensive analysis and review;Pathology International;2019-01
3. Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene;BMC Medical Genetics;2018-01-22
4. Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation;Journal of Human Genetics;2016-10-13
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