Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric 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 asso...

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Detalles Bibliográficos
Autores principales: Shieh, Joseph T, Tintos-Hernández, 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: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915813/
https://www.ncbi.nlm.nih.gov/pubmed/36778397
http://dx.doi.org/10.1101/2023.01.30.23285099

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915813/
https://www.ncbi.nlm.nih.gov/pubmed/36778397
http://dx.doi.org/10.1101/2023.01.30.23285099

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