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Updated: Jun 9, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Published on: August 8, 2022

キプロス出身のグルメルノネフライトス患者におけるコンプレメントH因子関連タンパク質5の変異の特定

Daniel P Gale1, Elena Goicoechea de Jorge, H Terence Cook

  • 1Division of Medicine, University College, London, UK.

Lancet (London, England)
|August 31, 2010
PubMed
まとめ

補足因子H関連タンパク質5遺伝子 (CFHR5) の突然変異は,CFHR5腎不全と呼ばれる家族性腎疾患を引き起こす. 腎不全のこの遺伝的原因は,キプロス人に多く見られ,分子診断が必要である.

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