Cargando…
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),...
| Autor principal: | |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2021
|
| Materias: | |
| 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 |