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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Medicine (Baltimore)
Egile Nagusiak: Chen, Yao, Lin, Xuehua, Lin, Qingying, Zeng, Yinglin, Qiu, Xiaolong, Liu, Guanghua, Zhu, Wenbin
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Lippincott Williams & Wilkins 2021
Gaiak:
6600
Sarrera elektronikoa: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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