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Updated: Jul 13, 2025

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在PCCB基因中发现的cis新变异的功能分析在患有propionic acidemia的患者中

Ainhoa Martínez-Pizarro1, Nadège Calmels2, Audrey Schalk2

  • 1Centro de Biología Molecular Severo Ochoa UAM-CSIC, CIBERER, IdiPaz, IUBM, Universidad Autónoma de Madrid, Madrid, Spain.

Gene
|October 15, 2023
PubMed
概括

在一个 propionic acidemia 患者中,PCCB 基因中发现了两种新型致病变异. 功能分析证实了它们的有害作用,扩大了这种罕见代谢障碍的已知遗传原因.

关键词:
基因型与表型的相关性突变表达分析的分析致病性 致病性 致病性propionic 酸血症,PCCB 基因 的基因

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