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Updated: Feb 20, 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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祖父をテストする! 3つの無症状のファミリーにおける偶発的なDMD枠内の削除

Dorsa Kord1, Victoria M Siu2,3

  • 1University of Ottawa Faculty of Medicine, Ottawa, Ontario, Canada dkord@uwo.ca.

Journal of medical genetics
|February 18, 2026
PubMed
まとめ

ディストロフィン (DMD) 遺伝子のインフレーム削除は,しばしば偶然に発見され,それらを継承する男性では症状を引き起こさない場合があります. この発見は,予後と家族計画に安心感を与えます.

キーワード:
心筋病は,心筋病である.遺伝カウンセリング 遺伝カウンセリング遺伝疾患,X-リンクされた遺伝疾患神経筋疾患 神経筋疾患予後予測 予後予測

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Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides05:16

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