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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2021
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| Materias: | |
| 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 |