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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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Detalhes bibliográficos
Publicado no:Medicine (Baltimore)
Main Authors: Chen, Yao, Lin, Xuehua, Lin, Qingying, Zeng, Yinglin, Qiu, Xiaolong, Liu, Guanghua, Zhu, Wenbin
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2021
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Acesso em linha: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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