関連する実験動画

Updated: Feb 23, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

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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チュニジアのPMM2-CDG患者における創始者変種:統合された臨床,放射線,生化学,遺伝子研究

Lilia Kraoua1, Thouraya Ben Younes2, Monia El Asmi3

  • 1Department of Congenital and Hereditary Diseases, harles Nicolle Hospital, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Molecular genetics and metabolism
|February 21, 2026
PubMed
まとめ

この研究は,チュニジアにおけるPMM2-CDGの詳細を明らかにし,再発するPMM2遺伝子変異から創始者の効果を明らかにしています. 患者は適度な神経学的症状を示し,いくつかの変動があり,この一般的な先天性グルコシライゼーション障害の遺伝的特徴の重要性を強調しています.

キーワード:
グラコシル化の先天性障害創業者の効果とはゲノタイプ-フェノタイプ相関関係PMM2遺伝子は,PMM2の遺伝子である.PMM2-CDGとは

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