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2019 | 1 |
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PubMed (GeneRIF) for id: 53940
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Novel mutation in FTHL17 gene in pedigree with 46,XY pure gonadal dysgenesis.
Fertil Steril. 2019 Jun;111(6):1226-1235.e1. doi: 10.1016/j.fertnstert.2019.01.027. Epub 2019 Mar 25.
Fertil Steril. 2019.
PMID: 30922653
Free article.
The Ferritin-Heavy-Polypeptide-Like-17 (FTHL17) gene encodes a ferritin with low stability and no ferroxidase activity and with a partial nuclear localization.
Ruzzenenti P, Asperti M, Mitola S, Crescini E, Maccarinelli F, Gryzik M, Regoni M, Finazzi D, Arosio P, Poli M.
Ruzzenenti P, et al.
Biochim Biophys Acta. 2015 Jun;1850(6):1267-73. doi: 10.1016/j.bbagen.2015.02.016. Epub 2015 Mar 5.
Biochim Biophys Acta. 2015.
PMID: 25749565
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