Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations

• المؤلفون الرئيسيون: Artur Beke (مؤلف), Henriett Piko (مؤلف), Iren Haltrich (مؤلف), Veronika Karcagi (مؤلف), Janos Rigo (مؤلف), Maria Judit Molnar (مؤلف), György Fekete (مؤلف)
• التنسيق: كتاب
• منشور في: BMC, 2018-07-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Abstract Background Premature ovarian failure / primary ovarian insufficiency (POF/POI) associated with the mutations of the FMR1 (Fragile-X Mental Retardation 1) gene belongs to the group of the so-called trinucleotide expansion diseases. Our aim was to analyse the relationship between the paternal...