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Heterozygous nonsense variants in the ferritin heavy-chain ..:
Shieh, Joseph T
;
Tintos-Hernandez, Jesus A
;
Murali, Chaya N
...
qt1rs9t60h. , 2023
Link:
https://escholarship.org/uc/item/1rs9t60h
RT Journal T1
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt1rs9t60h&Exemplar=1&LAN=DE A1 Shieh, Joseph T A1 Tintos-Hernandez, Jesus A A1 Murali, Chaya N A1 Penon-Portmann, Monica A1 Flores-Mendez, Marco A1 Santana, Adrian A1 Bulos, Joshua A A1 Du, Kang A1 Dupuis, Lucie A1 Damseh, Nadirah A1 Mendoza-Londoño, Roberto A1 Berera, Camilla A1 Lee, Julieann C A1 Phillips, Joanna J A1 Alves, César APF A1 Dmochowski, Ivan J A1 Ortiz-González, Xilma R PB eScholarship, University of California YR 2023 K1 Biological Sciences K1 Genetics K1 Neurosciences K1 Brain Disorders K1 Neurodegenerative K1 Pediatric K1 Rare Diseases K1 Clinical Research K1 2.1 Biological and endogenous factors K1 Aetiology K1 Neurological K1 Humans K1 Neuroaxonal Dystrophies K1 Iron Metabolism Disorders K1 Iron K1 Oxidoreductases K1 Child K1 Ferritins K1 Apoferritins K1 anti-sense K1 dominant negative K1 exome sequencing K1 gene disease discovery K1 pediatric genetics K1 pediatric neurology JF qt1rs9t60h LK http://dx.doi.org/https://escholarship.org/uc/item/1rs9t60h DO https://escholarship.org/uc/item/1rs9t60h SF ELIB - SuUB Bremen
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