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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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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Kaler, Stephen G., Ferreira, Carlos R., Yam, Lung S.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Acesso em linha: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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