Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency
Үндсэн зохиолчид: | Alam, N, Rowan, A, Wortham, N, Pollard, P, Mitchell, M, Tyrer, J, Barclay, E, Calonje, E, Manek, S, Adams, S, Bowers, P, Burrows, N, Charles-Holmes, R, Cook, L, Daly, B, Ford, G, Fuller, L, Hadfield-Jones, SE, Hardwick, N, Highet, A, Keefe, M, MacDonald-Hull, S, Potts, E, Crone, M, Wilkinson, S |
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Формат: | Journal article |
Хэвлэсэн: |
2003
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Ижил төстэй зүйлс
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Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
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Hereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants
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Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
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Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome.
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Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis.
-н: Parmentier, L, зэрэг
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