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.Result...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-03-01
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| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.807822/full |