Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian

Propionic acidemia is associated with pathogenic variants in PCCA or PCCB gene. We investigated the potential pathogenic variants in PCCA or PCCB genes in Fujian Han population. Two probands and their families of Han ethnicity containing two generations were subject to newborn screening using tandem...

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Bibliographic Details
Published in:Medicine (Baltimore)
Main Authors: Chen, Yao, Lin, Xuehua, Lin, Qingying, Zeng, Yinglin, Qiu, Xiaolong, Liu, Guanghua, Zhu, Wenbin
Format: Artigo
Language:Inglês
Published: Lippincott Williams & Wilkins 2021
Subjects:
6600
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7969319/
https://ncbi.nlm.nih.gov/pubmed/33725819
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000024161
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