Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria

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 screenin...

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Publicat a:Mol Genet Genomic Med
Autors principals: Gabriel, Marie Cosette, Rice, Stephanie M., Sloan, Jennifer L., Mossayebi, Matthew H., Venditti, Charles P., Al‐Kouatly, Huda B.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2021
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8123733/
https://ncbi.nlm.nih.gov/pubmed/33625768
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1621
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