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Updated: Sep 9, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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ローター症候群の3人の患者で再発したSLCO1B1およびSLCO1B3変異が確認された

Chenyu Zhao1,2, Hui Huang2

  • 1Department of Gastroenterology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China.

Frontiers in medicine
|September 3, 2025
PubMed
まとめ

ローター症候群は珍しい遺伝疾患で,SLCO1B1およびSLCO1B3遺伝子の変異によって引き起こされます. この研究は3人の中国人患者で特定の変異を特定し,この状態の理解を進めた.

キーワード:
ローター症候群SLCO1B1についてSLCO1B3 についてハイパービリルビネミア変異

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