Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.
Mendelian tumour syndromes are caused by rare mutations, which usually lead to protein inactivation. Few studies have determined whether or not the same genes harbour other, more common variants, which might have a lower penetrance and/or cause mild disease, perhaps indistinguishable from sporadic d...
主要な著者: | Lamlum, H, Al Tassan, N, Jaeger, E, Frayling, I, Sieber, O, Reza, F, Eckert, M, Rowan, A, Barclay, E, Atkin, W, Williams, C, Gilbert, J, Cheadle, J, Bell, J, Houlston, R, Bodmer, W, Sampson, J, Tomlinson, I |
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フォーマット: | Journal article |
言語: | English |
出版事項: |
2000
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