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With expanded carrier screening, founder populations run the risk of being overlooked
Genetically isolated populations exist worldwide. Specific genetic disorders, including rare autosomal recessive disorders may have high prevalences in these populations. We searched for Dutch genetically isolated populations and their autosomal recessive founder mutations. We investigated whether t...
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Publicado no: | J Community Genet |
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Main Authors: | , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Springer Berlin Heidelberg
2017
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5614881/ https://ncbi.nlm.nih.gov/pubmed/28555434 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12687-017-0309-5 |
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