Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database

BACKGROUND: The genetic prevalence of Pompe disease was estimated based on the proportion of individuals who have a causative genotype in a general population database. In addition, clinical severity for causative genotypes was assessed based on currently available locus-specific databases (LSDBs),...

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Detalles Bibliográficos
Autor principal: Park, Kyung Sun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7933537/
https://www.ncbi.nlm.nih.gov/pubmed/33717985
http://dx.doi.org/10.1016/j.ymgmr.2021.100734

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7933537/
https://www.ncbi.nlm.nih.gov/pubmed/33717985
http://dx.doi.org/10.1016/j.ymgmr.2021.100734

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