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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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在88名日本患有先天性低原性低原症患者的综合分子研究中

Wataru Tanikawa1, Shingo Okamoto2, Osamu Ohara3

  • 1Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.

The Journal of clinical endocrinology and metabolism
|October 3, 2025
PubMed
概括

先天性性性性性 (CHH) 可能是由多个基因引起的. 这项研究发现了ZNF462,SEMA4D和CDH2中的新变异,这表明CHH可能是由于寡原性或多因素遗传引起的.

关键词:
遗传性先天性性性性性性基因面板分析基因分析.遗传变异是一种遗传变异.单基性疾病是一种单基性疾病.寡生性/多因素性疾病.整体外基因组测序的测序

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