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Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)
BACKGROUND: Previous estimates of the prevalence of Menkes disease, a lethal X-linked recessive disorder of copper metabolism, were based on confirmed clinical cases ascertained from specific populations and varied from 1 in 40,000 to 1 in 354,507. With newly available population-based allelic frequ...
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| Wydane w: | Mol Genet Metab Rep |
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| Główni autorzy: | , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Elsevier
2020
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7283148/ https://ncbi.nlm.nih.gov/pubmed/32528851 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100602 |
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