Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IRE-Reference-Cited by-同舟云学术

Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IRE

Published:2006-01 Issue:1 Volume:36 Page:33-40
ISSN:1079-9796
Container-title:Blood Cells, Molecules, and Diseases
language:en
Short-container-title:Blood Cells, Molecules, and Diseases

Author:

Papanikolaou George,Chandrinou Helen,Bouzas Evrydiki,Contopoulos-Ioannidis Despina,Kalotychou Vassiliki,Prentzas Konstantinos,Lilakos Konstantinos,Asproudis Ioannis,Palaiologou Danai,Premetis Evangelos,Papassotiriou Ioannis,Sakellaropoulos Nikos

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference41 articles.

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2. A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract;Girelli;Br. J. Haematol.,1995

3. Molecular basis for the recently described hereditary hyperferritinemia–cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene;Girelli;Blood,1995

4. Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia–cataract syndrome;Girelli;Br. J. Haematol.,2001

5. Hereditary hyperferritinemia–cataract syndrome: two novel mutations in the L-ferritin iron-responsive element;Mumford;Blood,1998

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1. Brazilian family with hyperferritinemia-cataract syndrome: case report;einstein (São Paulo);2022

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

3. A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome;Acta Ophthalmologica;2017-06-21

4. Nueva mutación en una familia española con síndrome de hiperferritinemia hereditaria y cataratas;Medicina Clínica;2014-01

5. Genetic Testing for Disorders of Iron Homeostasis;Iron Physiology and Pathophysiology in Humans;2011-11-24