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Updated: Jan 16, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

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非截断的BMPR1A变异与家族性结直肠癌和腺瘤多有关

Taina T Nieminen1, Outi Kuismin2, Riitta Laine2

  • 1Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland. taina.nieminen@helsinki.fi.

BMC cancer
|September 30, 2025
PubMed
概括

骨形态蛋白质受体1A型 (BMPR1A) 基因中的致病变体可以导致超出青少年多发症综合征的疾病. 这些BMPR1A变异与一系列胃肠道疾病有关,突出显示了复杂的基因型-表型关系.

关键词:
这就是BMPR1A.形多体的多体.结肠直肠癌是一种癌症.家庭性结直肠癌X型青少年多发症综合征是什么

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