Description of a New Mutation in the L-Ferritin Iron-Responsive Element Associated With Hereditary Hyperferritinemia-Cataract Syndrome in a Spanish Family-Reference-Cited by-同舟云学术

Description of a New Mutation in the L-Ferritin Iron-Responsive Element Associated With Hereditary Hyperferritinemia-Cataract Syndrome in a Spanish Family

Published:1999-06-01 Issue:11 Volume:93 Page:4020-4021
ISSN:1528-0020
Container-title:Blood
language:en
Short-container-title:

Author:

Balas Antonio¹,Aviles Maria Jose¹,Garcia-Sanchez Felix¹,Vicario Jose L.¹,Cervera Aurea²

Affiliation:

1. Histocompatibility and Molecular Biology Laboratory, Regional Transfusion Centre, Madrid, Spain

2. Paediatric Department, Mostoles General Hospital, Madrid, Spain

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/93/11/4020/1653904/4020.pdf

Reference6 articles.

1. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene (the “Verona mutation”).;Girelli;Blood,1995

2. Regulating the fate of mRNA: The control of cellular iron metabolism.;Klausner;Cell,1993

3. Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome.;Levi;Blood,1998

4. Cloning of the gene coding for human L apoferritin.;Santoro;Nucleic Acids Res,1986

5. Hereditary hyperferritinemia-cataract syndrome: Relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA.;Cazzola;Blood,1997

Cited by 39 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. Conservation in the Iron Responsive Element Family;Genes;2021-08-30

2. Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases;International Journal of Molecular Sciences;2021-05-21

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

4. Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications;Journal of American Association for Pediatric Ophthalmology and Strabismus;2020-12

5. Hereditary hyperferritinaemia-cataract syndrome (HHCS) – an underestimated condition: ferritin light chain variant spectrum in German families;Clinical Chemistry and Laboratory Medicine (CCLM);2019-06-18