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• W2001035195 abstract "We report nine mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in sporadic parathyroid adenomas. Six of them have not previously been described: E60X, P32R, 261delA, 934+2T-->G, S443P, and 1593insC. The tissue samples were initially submitted to LOH analysis at 11q13 followed by SSCP screening of LOH-positive samples. Mutations were identified by direct sequencing and subcloning. Three (E60X, P32R, and 261delA) were in exon 2, one (934+2bp) in the splice junction of exon 5, one (S443P) in exon 9, and one (1593insC) in exon 10. The 3 mutations in exon 2 were associated with loss and/or creation of a restriction site. The corresponding germline sequence of the MEN1 gene was normal. Most mutations would likely result in a nonfunctional menin protein, and therefore in the loss of a tumor suppressor protein." @default.
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• W2001035195 date "2000-01-01" @default.
• W2001035195 modified "2023-10-14" @default.
• W2001035195 title "Six novelMEN1 gene mutations in sporadic parathyroid tumors" @default.
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• W2001035195 doi "https://doi.org/10.1002/1098-1004(200011)16:5<445::aid-humu12>3.0.co;2-6" @default.
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