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Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia
Introduction: Propionic acidemia is an autosomal recessive metabolic disorder and the patients with adult onset are very rare. Methods: Two PCCB mutations were identified. Clinical data were collected from a patient, and metabolic screening and clinical exome sequencing analysis were performed. Resu...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8968641/ https://www.ncbi.nlm.nih.gov/pubmed/35368667 http://dx.doi.org/10.3389/fgene.2022.807822 |