Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency

BACKGROUND: To dissect the genetic alteration in two sisters with premature ovarian insufficiency (POI) from a consanguineous family. METHODS: Whole-exome sequencing technology was used in the POI proband, bioinformatics analysis was carried out to identify the potential genetic cause in this pedigr...

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Detalles Bibliográficos
Autores principales: Chen, Beili, Li, Lin, Wang, Jing, Li, Tengyan, Pan, Hong, Liu, Beihong, Zhou, Yiran, Cao, Yunxia, Wang, Binbin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006558/
https://www.ncbi.nlm.nih.gov/pubmed/29914564
http://dx.doi.org/10.1186/s13048-018-0413-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006558/
https://www.ncbi.nlm.nih.gov/pubmed/29914564
http://dx.doi.org/10.1186/s13048-018-0413-0

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