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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5614881/
https://www.ncbi.nlm.nih.gov/pubmed/28555434
http://dx.doi.org/10.1007/s12687-017-0309-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5614881/
https://www.ncbi.nlm.nih.gov/pubmed/28555434
http://dx.doi.org/10.1007/s12687-017-0309-5

Ejemplares similares