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

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 analyz...

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Bibliographic Details
Main Authors: Jing Zhe, Shiling Chen, Xin Chen, Yudong Liu, Ying Li, Xingyu Zhou, Jun Zhang
Format: Article
Language:English
Published: BMC 2019-07-01
Series:Journal of Ovarian Research
Subjects:
Premature ovarian insufficiency
HFM1
Whole-exome sequencing
Splicing minigene
Online Access:http://link.springer.com/article/10.1186/s13048-019-0537-x

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