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Autor:
Mélanie Eyries, Olivier Ariste, Gaelle Legrand, Noémie Basset, Erell Guillerm, Alexandre Perrier, Caroline Duros, Odile Cohen-Haguenauer, Pierre de la Grange, Florence Coulet
Publikováno v:
European Journal of Human Genetics. 30:1187-1190
Despite routine analysis of a large panel of genes, pathogenic variants are only detected in approximately 20% of families with hereditary breast and/or ovarian cancer. Mobile element insertions (MEI) are known to cause genetic diseases in humans, bu