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外体序列测定揭示了非综合征性胆固醇性肝病患者的IFT172变体

Magdaléna Neřoldová1,2, Elżbieta Ciara3, Janka Slatinská1

  • 1Institute for Clinical and Experimental Medicine, Prague, Czech Republic.

PloS one
|July 20, 2023
PubMed
概括

整体外因子测序确定了与儿科和成人患者非综合征性胆固醇性肝病相关的新型IFT172基因变异. 这一发现扩大了对肝脏内胆固醇病的遗传理解.

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Diseases of the Liver and Gallbladder01:26

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Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
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