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Updated: Feb 20, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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病原性LMNA変種R482に関連した2型家族局部性脂質消化症の変数表現力:母から異卵性双生児への感染

Paola Andrea Duque-Cordoba1,2, Lorena Diaz-Ordoñez1,2, Laura Carvajal-Del-Castillo2,3

  • 1Genomic Medicine Laboratory, Universidad Icesi, Cali, Colombia.

The application of clinical genetics
|February 19, 2026
PubMed
まとめ

家族性部分性脂質消化症2型 (FPLD2) は,同一のLMNA遺伝子変異にもかかわらず,重度が変動する. これは,年齢や性別などの要因が,このまれな疾患における代謝合併症にどのように影響するかを強調しています.

キーワード:
LMNAタンパク質 LMNAタンパク質ディスリピデミア症とはファミリアル パーチアル ファミリアル パーチアル遺伝的多様性 遺伝的多様性人間,人,人,人.インスリン抵抗性 インスリン抵抗性とはリポディストロフィーは,

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