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Updated: Feb 28, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
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オーストラリアにおけるミトコンドリア病のゲノム検査の主流化

Megan Ball1,2,3, Naomi Baker4, Sze Chern Lim4

  • 1Murdoch Children's Research Institute, Melbourne, VIC, Australia. megan.ball@mcri.edu.au.

European journal of human genetics : EJHG
|February 26, 2026
PubMed
まとめ

オーストラリアにおけるミトコンドリア病の公的資金によるゲノムシーケンシング（GS）は有望であり、20％の診断率を達成しています。より広範な影響のためには、特に遠隔地におけるアクセスを改善する努力が必要です。

キーワード:
ミトコンドリア病ゲノムシーケンシング遺伝子診断オーストラリア公的医療保険

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