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Updated: May 3, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
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High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

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脊髄筋縮を決定する遺伝子の識別と特徴付け

S Lefebvre1, L Bürglen, S Reboullet

  • 1Unité de Recherches sur les Handicaps Génétiques de l'Enfant, Institut National de la Santé et de la Recherche Médicale, Institut Necker, Hôpital des Enfants Malades, Paris, France.

Cell
|January 13, 1995
PubMed
まとめ

脊髄筋縮 (SMA) は致命的な遺伝疾患である. 研究者らは,生存モーターニューロン (SMN) 遺伝子をSMAの原因として特定し,ほとんどの患者に欠席または変異していることを発見しました.

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