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Updated: May 11, 2025

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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在年轻发病的零星垂体腺瘤中发生的生殖系遗传变异:多基因小组分析

Leonor M Gaspar1, Catarina I Gonçalves1, Ema L Nobre2

  • 1CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilhã, Portugal.

Journal of clinical & translational endocrinology
|April 18, 2025
PubMed
概括

像AIP和PMS2这样的基因的生殖系突变在7.1%的患有偶发性垂体腺瘤的年轻患者中被发现. 对于早期出现的垂体瘤,建议进行遗传查.

关键词:
遗传学 是一个遗传学.突变突变是一种突变.致病性变体是一种致病性变体.下垂体腺瘤是什么意思

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相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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