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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Detalles Bibliográficos
Autores principales: Kaler, Stephen G., Ferreira, Carlos R., Yam, Lung S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7283148/
https://www.ncbi.nlm.nih.gov/pubmed/32528851
http://dx.doi.org/10.1016/j.ymgmr.2020.100602

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7283148/
https://www.ncbi.nlm.nih.gov/pubmed/32528851
http://dx.doi.org/10.1016/j.ymgmr.2020.100602

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