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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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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5902394/ https://ncbi.nlm.nih.gov/pubmed/29363275 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.345 |
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