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Matches in SemOpenAlex for { <https://semopenalex.org/work/W2013199129> ?p ?o ?g. }

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• W2013199129 abstract "Bloom's syndrome (BS) is a rare recessive disorder caused by germline mutation of the BLM gene. Individuals with BS manifest growth retardation, immunodeficiency, and a predisposition to cancer. In this report, we describe an individual with BS and multiple colonic adenomas reminiscent of familial adenomatous polyposis coli (FAP). Molecular studies revealed APC mutations in 4 of 6 adenomas, including 2 adenomas with the identical APC mutation and microsatellite instability in 1 of 6 adenomas. These results demonstrate similar pathways to colorectal neoplasia in BS as in the normal population and suggest that individuals with BS may be particularly susceptible to colorectal neoplasia." @default.
• W2013199129 created "2016-06-24" @default.
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• W2013199129 date "2001-08-01" @default.
• W2013199129 modified "2023-09-27" @default.
• W2013199129 title "Numerous colonic adenomas in an individual with Bloom's syndrome" @default.
• W2013199129 cites W1968329993 @default.
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• W2013199129 doi "https://doi.org/10.1053/gast.2001.26259" @default.
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