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Updated: Jun 13, 2025

A High-Throughput Luciferase Assay to Evaluate Proteolysis of the Single-Turnover Protease PCSK9
08:14

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Published on: August 28, 2018

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致病性深层内源性PCSK1变体导致亲蛋白转化酶1/3缺乏在一个家庭

Leah M Huber1, Aslı Subaşıoğlu2,3, Dorota Garczarczyk-Asim1

  • 1Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.

Clinical genetics
|February 1, 2025
PubMed
概括

对于能量恒温来说至关重要的蛋白转化酶1/3 (PC1/3) 缺乏症可能是由深层内在PCSK1变异引起的,导致异常拼接. 扩展的基因检测对于及时诊断这种多边分泌病变至关重要.

关键词:
在PCSK1中.遗传性吸收不良腹是先天的.内分泌病变 (内分泌病变) 是一种内分泌病变.肥胖 肥胖 肥胖 肥胖 肥胖 肥胖 肥胖 肥胖蛋白转化酶的1/3

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