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

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 genet...

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Detalles Bibliográficos
Autores principales: Zhe, Jing, Chen, Shiling, Chen, Xin, Liu, Yudong, Li, Ying, Zhou, Xingyu, Zhang, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612105/
https://www.ncbi.nlm.nih.gov/pubmed/31279343
http://dx.doi.org/10.1186/s13048-019-0537-x

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