A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency

Abstract Background Premature ovarian insufficiency (POI) leads to early loss of ovarian function in women aged < 40 years and is highly heterogeneous in etiology. The genetic etiology of this disorder remains unknown in most women with POI. Methods Whole-exome sequencing (WES) was used to analyze g...

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Autors principals:	Jing Zhe, Shiling Chen, Xin Chen, Yudong Liu, Ying Li, Xingyu Zhou, Jun Zhang
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2019-07-01
Col·lecció:	Journal of Ovarian Research
Matèries:	Premature ovarian insufficiency HFM1 Whole-exome sequencing Splicing minigene
Accés en línia:	http://link.springer.com/article/10.1186/s13048-019-0537-x
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