Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria
Abstract Background Expanded carrier screening (ECS) utilizes high‐throughput next‐generation sequencing to evaluate an individual's carrier status for multiple conditions. Combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency is a rare inherited disease included in such scree...
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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wiley
2021-04-01
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| coleção: | Molecular Genetics & Genomic Medicine |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1002/mgg3.1621 |
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