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Updated: Sep 9, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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PMM2-CDGの臨床的および遺伝的スペクトルの調査:新しい変種と以前の研究による洞察

Parnian Alagha1, Tara Akhtarkhavari1, Ebrahim Shokouhian1

  • 1Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Archives of Iranian medicine
|August 31, 2025
PubMed
まとめ

この研究は,稀な先天性糖化症であるPMM2-CDGの新たな遺伝子変異を特定し,この多系統疾患のより良い診断と管理のための遺伝子型-現象型相関の理解を向上させます.

キーワード:
グライコシレーション型1Aの先天性障害ゲノタイプ-フェノタイプ相関新しい変種PMM2遺伝子

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