Functional study of a novel missense single‐nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency

BACKGROUND: Hypergonadotropic hypogonadism (HH) is a genetically heterogeneous disorder that usually presents with amenorrhea, atrophic ovaries, and low estrogen. Most cases of HH are idiopathic and nonsyndromic. Nucleoporin 107 (NUP107), a protein involved in transport between cytoplasm and nucleus...

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Detalles Bibliográficos
Autores principales: Ren, Yu, Diao, Feiyang, Katari, Sunita, Yatsenko, Svetlana, Jiang, Huaiyang, Wood‐Trageser, Michelle A., Rajkovic, Aleksandar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902394/
https://www.ncbi.nlm.nih.gov/pubmed/29363275
http://dx.doi.org/10.1002/mgg3.345

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