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Updated: Sep 9, 2025

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SLC6A17のバイアレル型変異は,自体性後退性知的障害を持つパキスタンの家族に

Malik Ali Asghar1, Rukhsana Nazir2, Saima Siddiqi1

  • 1Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan.

Clinical genetics
|September 2, 2025
PubMed
まとめ

この研究は,自体性後退性知的障害の新たな遺伝的原因を特定し,特にメンタル・レタダード・オートソーム・リセシブ48 (MRT48) を特定した. SLC6A17遺伝子の変異が同族の病気の原因であることが判明しました.

キーワード:
SLC6A17MRT48オートソーム性後退性知的障害震える

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