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Updated: Jul 20, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Published on: June 9, 2018

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一种新的纤维素原突变p.BβAla68Asp导致遗传性纤维素原血症

Kaiqi Jia1,2, Manlin Zeng1, Xiaoyong Zheng1

  • 1Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, People's Republic of China.

Hamostaseologie
|July 29, 2023
PubMed
概括

在FGB基因BβAla68Asp中发现了一种新型突变,该突变发生在患有遗传性纤维蛋白发育不良的家族中. 这种遗传变化与纤维素原活性降低有关,为疾病病原发生提供了洞察力.

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