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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Dettagli Bibliografici
Pubblicato in:Medicine (Baltimore)
Autori principali: Chen, Yao, Lin, Xuehua, Lin, Qingying, Zeng, Yinglin, Qiu, Xiaolong, Liu, Guanghua, Zhu, Wenbin
Natura: Artigo
Lingua:Inglês
Pubblicazione: Lippincott Williams & Wilkins 2021
Soggetti:
6600
Accesso online: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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