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Cancer Genetics and Cytogenetics|May 28, 2008
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancerTaru Ahvenainen, Heli J Lehtonen, Rainer Lehtonen, et al.The Journal of Clinical Endocrinology and Metabolism|May 24, 2007
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasiaMarianthi Georgitsi, Anniina Raitila, Auli Karhu, et al.Proceedings of the National Academy of Sciences of the United States of America|April 9, 2008
Unregulated smooth-muscle myosin in human intestinal neoplasiaPia Alhopuro, Denis Phichith, Sari Tuupanen, et al.The Journal of Pathology|June 2, 2011
Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation statusChiara Bardella, Mona El-Bahrawy, Norma Frizzell, et al.Cancer Research|October 28, 2010
Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesisHouman Ashrafian, Linda O'Flaherty, Julie Adam, et al.Nature Genetics|February 28, 2002
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancerIan P M Tomlinson, N Afrina Alam, Andrew J Rowan, et al.Pageof 4