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Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three-generation family with endometriosis

Endometriosis is an enigmatic condition with an unknown etiology and a poorly understood pathogenesis. It is considered to appear from the interplay of many genetic and environmental factors, affecting up to 10% of women and represents a major cause of pain and infertility. The familial association...

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Detalles Bibliográficos
Autores principales: Albertsen, Hans M., Matalliotaki, Charoula, Matalliotakis, Michail, Zervou, Maria I., Matalliotakis, Ioannis, Spandidos, Demetrios A., Chettier, Rakesh, Ward, Kenneth, Goulielmos, George N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390005/
https://www.ncbi.nlm.nih.gov/pubmed/30628680
http://dx.doi.org/10.3892/mmr.2019.9818