A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome-Reference-Cited by-同舟云学术

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A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome

Published:2017-06-21 Issue:1 Volume:96 Page:95-99
ISSN:1755-375X
Container-title:Acta Ophthalmologica
language:en
Short-container-title:Acta Ophthalmol

Author:

Mattila Roosa-Maria¹,Sainio Annele²,Järveläinen Marketta³,Pursiheimo Juha²,Järveläinen Hannu²⁴^ORCID

Affiliation:

1. Faculty of Medicine; University of Turku; Turku Finland

2. Department of Medical Biochemistry and Genetics; University of Turku; Turku Finland

3. Instrumentarium; Turku Finland

4. Department of Internal Medicine; Satakunta Central Hospital; Pori Finland

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/aos.13492/fullpdf

Reference39 articles.

1. Biological variability of transferrin saturation and unsaturated iron-binding capacity;Adams;Am J Med,2007

2. Mammalian iron metabolism and its control by iron regulatory proteins;Anderson;Biochim Biophys Acta,2012

3. Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family;Balas;Blood,1999

4. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract;Beaumont;Nat Genet,1995

5. Bilateral cataract and high serum ferritin: a new dominant genetic disorder?;Bonneau;J Med Genet,1995

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review;Hematology;2021-01-01

2. Biochemistry of mammalian ferritins in the regulation of cellular iron homeostasis and oxidative responses;Science China Life Sciences;2020-09-17

3. A case of iron deficiency anemia with extremely hyperferritinemia responds well to oral iron: the first identified hereditary hyperferritinemia cataract syndrome in China;Annals of Hematology;2020-05-20

4. Functional characterization of a novel non-coding mutation “Ghent +49A > G” in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome;Scientific Reports;2017-12

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