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...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Yao, Lin, Xuehua, Lin, Qingying, Zeng, Yinglin, Qiu, Xiaolong, Liu, Guanghua, Zhu, Wenbin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
6600
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7969319/
https://www.ncbi.nlm.nih.gov/pubmed/33725819
http://dx.doi.org/10.1097/MD.0000000000024161

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7969319/
https://www.ncbi.nlm.nih.gov/pubmed/33725819
http://dx.doi.org/10.1097/MD.0000000000024161

Ejemplares similares