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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Veröffentlicht in:J Community Genet
Hauptverfasser: Mathijssen, Inge B., van Maarle, Merel C., Kleiss, Iris I.M., Redeker, Egbert J.W., ten Kate, Leo P., Henneman, Lidewij, Meijers-Heijboer, Hanne
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer Berlin Heidelberg 2017
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Original Article
Online Zugang: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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