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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Библиографические подробности
Опубликовано в: :J Community Genet
Главные авторы: Mathijssen, Inge B., van Maarle, Merel C., Kleiss, Iris I.M., Redeker, Egbert J.W., ten Kate, Leo P., Henneman, Lidewij, Meijers-Heijboer, Hanne
Формат: Artigo
Язык:Inglês
Опубликовано: Springer Berlin Heidelberg 2017
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Original Article
Online-ссылка: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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