澳大利亚的囊性纤维化病载体查:比较不同祖先的测序和向面板

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Updated: Jul 28, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

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Eric Lee1, Kaylee Orton2

  • 1Molecular Genetics, Virtus Diagnostics, Revesby, New South Wales, Australia dr.ericlee@outlook.com.

Journal of medical genetics
|December 31, 2024
PubMed
概括

囊性纤维化 (CF) 载体查面板显示,南亚人群的敏感性较低. 需要进一步的研究,以改善非欧洲祖先群体的CFTR变异特征.

关键词:
基因携带者查 基因携带者查分子诊断技术 分子诊断技术呼吸道疾病 呼吸道疾病

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