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Updated: Sep 9, 2025

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
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生まれながらのフィブリノゲン疾患に関連した遺伝的変異: 全球分布と臨床結果

Thaís Nóbrega1, Paula Villaça1, Erica Okazaki1

  • 1Hospital University of São Paulo, São Paulo, Brazil.

Journal of thrombosis and thrombolysis
|August 29, 2025
PubMed
まとめ

生まれながらのフィブリノゲン疾患 (CFD) は,出血や凝固を引き起こす遺伝的変異を含みます. このレビューは,変異の分布と現象型を世界的にマッピングし, 低所得地域における公平な希少疾患管理のためのデータギャップを強調しています.

キーワード:
アフィブリノゲネミア生まれつきのディスフィブリノゲネミアフィブリノゲン世界疾病負担変異

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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