Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders

BACKGROUND: Founder populations that have recently undergone important genetic bottlenecks such as French-Canadians and Ashkenazi Jews can harbor some pathogenic variants at a higher carrier rate than the general population, putting them at a higher risk for certain genetic diseases. In these popula...

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Detalles Bibliográficos
Autores principales: Robichaud, Philippe Pierre, Allain, Eric P., Belbraouet, Sarah, Bhérer, Claude, Mamelona, Jean, Harquail, Jason, Crapoulet, Stéphanie, Crapoulet, Nicolas, Bélanger, Mathieu, Ben Amor, Mouna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9055701/
https://www.ncbi.nlm.nih.gov/pubmed/35488281
http://dx.doi.org/10.1186/s12920-022-01249-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9055701/
https://www.ncbi.nlm.nih.gov/pubmed/35488281
http://dx.doi.org/10.1186/s12920-022-01249-1

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