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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Bibliografiska uppgifter
I publikationen:J Community Genet
Huvudupphovsmän: Mathijssen, Inge B., van Maarle, Merel C., Kleiss, Iris I.M., Redeker, Egbert J.W., ten Kate, Leo P., Henneman, Lidewij, Meijers-Heijboer, Hanne
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer Berlin Heidelberg 2017
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Original Article
Länkar: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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