Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy

Ferritin, the iron-storage protein, is composed of light- and heavy-chain subunits, encoded by FTL and FTH1, respectively. Heterozygous variants in FTL cause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumulation (NBIA). Variants in FTH1 have not been previously ass...

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Detalles Bibliográficos
Autores principales: Shieh, Joseph T., Tintos-Hernandez, Jesus A., Murali, Chaya N., Penon-Portmann, Monica, Flores-Mendez, Marco, Santana, Adrian, Bulos, Joshua A., Du, Kang, Dupuis, Lucie, Damseh, Nadirah, Mendoza-Londoño, Roberto, Berera, Camilla, Lee, Julieann C., Phillips, Joanna J., Alves, César A.P.F., Dmochowski, Ivan J., Ortiz-González, Xilma R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10510067/
https://www.ncbi.nlm.nih.gov/pubmed/37660254
http://dx.doi.org/10.1016/j.xhgg.2023.100236

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10510067/
https://www.ncbi.nlm.nih.gov/pubmed/37660254
http://dx.doi.org/10.1016/j.xhgg.2023.100236

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