New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing.

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作者： Liliana Catherine,Patiño ^[1] ; Isabelle,Beau ^[2] ; Carolina,Carlosama ^[1] ; July Constanza,Buitrago ^[1] ; Ronald,González ^[3] ; Carlos Fernando,Suárez ^[3] ; Manuel Alfonso,Patarroyo ^[4] ; Brigitte,Delemer ^[3] ; Jacques,Young ^[5] ; Nadine,Binart ^[6] ; Paul,Laissue ^[2]

作者单位： Center For Research in Genetics and Genomics (CIGGUR), GENIUROS Research Group, School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24N° 63C-69, CP 112111, Bogotá DC, Colombia. ^[1] Inserm 1185, Le Kremlin-Bicêtre 94276, Université Paris-Saclay, Faculté de Médecine Paris Sud, Le Kremlin-Bicêtre, France. ^[2] Fundación Instituto de Inmunología de Colombia (FIDIC), Carrera 50 N° 26-20, CP 111321, Bogotá DC, Colombia. ^[3] Universidad de Ciencias Aplicadas y Ambientales (UDCA), Calle 222 N° 55-37, CP 111166, Bogotá DC, Colombia. ^[4] Basic Sciences Department, School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24 N° 63C-69, CP 112111, Bogotá DC, Colombia. ^[5] Service d'Endocrinologie-Diabète-Nutrition, CHU de Reims-Hôpital Robert-Debré, 51092 Reims, France. ^[6] APHP, Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Le Kremlin-Bicêtre 94275, France. ^[7]

关键词 female infertility molecular etiology polygenic disease primary ovarian insufficiency whole-exome sequencing