Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.
about
Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studiesMetabolic Enzymes Enjoying New Partnerships as RNA-Binding ProteinsNeuroferritinopathy: From ferritin structure modification to pathogenetic mechanismThe IRP/IRE system in vivo: insights from mouse models.Electrophoretic mobility shift assay (EMSA) for the study of RNA-protein interactions: the IRE/IRP example.Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome.A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome.Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family.Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome.Serum ferritin is an important inflammatory disease marker, as it is mainly a leakage product from damaged cells
P2860
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P2860
Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Novel mutations in the ferriti ...... rritinaemia cataract syndrome.
@ast
Novel mutations in the ferriti ...... rritinaemia cataract syndrome.
@en
type
label
Novel mutations in the ferriti ...... rritinaemia cataract syndrome.
@ast
Novel mutations in the ferriti ...... rritinaemia cataract syndrome.
@en
prefLabel
Novel mutations in the ferriti ...... rritinaemia cataract syndrome.
@ast
Novel mutations in the ferriti ...... rritinaemia cataract syndrome.
@en
P2093
P2860
P356
P1476
Novel mutations in the ferriti ...... rritinaemia cataract syndrome.
@en
P2093
Carmen Benet Campos
Frank Risse
Gabriele Tolle
Jessica Aranda
Martina U Muckenthaler
Mayka Sánchez
Sara Luscieti
Érica Morán
P2860
P2888
P356
10.1186/1750-1172-8-30
P577
2013-02-19T00:00:00Z
P5875
P6179
1003278317