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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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Detalhes bibliográficos
Publicado no:J Community Genet
Main Authors: Mathijssen, Inge B., van Maarle, Merel C., Kleiss, Iris I.M., Redeker, Egbert J.W., ten Kate, Leo P., Henneman, Lidewij, Meijers-Heijboer, Hanne
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2017
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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