Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element.

No abstract is available for this paper.

• Publication year

  1998

• Venue

  Blood

• Publication date

  Unknown publication date

• Fields of study

  Medicine

• Identifiers
  DOI 10.1182/BLOOD.V91.1.367.367_367_368PMID 9414313
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA.

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  1993cited by this paper
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  1992cited by this paper
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  1990cited by this paper

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  2018cites this paper
• HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

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• Extreme hyperferritinaemia; clinical causes

  2013cites this paper
• Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

  2013cites this paper
• A new family with hereditary hyperferritinemia cataract syndrome.

  2013cites this paper
• Iron Metabolism and Related Disorders

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• Genetic Testing for Disorders of Iron Homeostasis

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• Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families.

  2011cites this paper
• RNA Structures Affected By Single Nucleotide Polymorphisms In Transcribed Regions Of The Human Genome

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• Mutation analysis of the ferritin L-chain gene in age-related cataract

  2010cites this paper
• A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome.

  2010cites this paper
• Hyperferritinaemia-cataract syndrome: Worldwide mutations and phenotype of an increasingly diagnosed genetic disorder

  2010cites this paper
• THE CASE OF A 1-YEAR-OLD GIRL WITH HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME

  2009cites this paper
• Hereditary hyperferritinemia-cataract syndrome.

  2007cites this paper
• NOTAS CLÍNICAS Síndrome hereditario de hiperferritinemia y catarata Hereditary syndrome of hyperferritinemia and cataract

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  2007cites this paper
• Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract.

  2007cites this paper
• [Hereditary syndrome of hyperferritinemia and cataract].

  2007cites this paper
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  2006cites this paper
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  2005cites this paper
• Role of ferritin and ferroportin genes in unexplained hyperferritinaemia.

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• Granulocyte function in patients with L‐ferritin iron‐responsive element (IRE) 39C→T‐positive hereditary hyperferritinaemia–cataract syndrome

  2004cites this paper
• Molecular genetic basis of inherited cataract and associated phenotypes.

  2004cites this paper
• Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations.

  2003cites this paper
• [Hereditary hyperferritinaemia-cataract syndrome].

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• Hereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis

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  2002cites this paper
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• Regulation of intracellular iron levels in iron-acceptor and iron-donor cells.

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• Diagnostic des surcharges en fer

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• [Pair of siblings of Italian ethnicity with hyperferritinemia and cataract].

  2000cites this paper
• The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin

  2000cites this paper
• Gendiagnostische Möglichkeiten der hereditären Hämochromatose

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• Translational pathophysiology: a novel molecular mechanism of human disease.

  2000cites this paper
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  2000cites this paper
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  1999cites this paper
• [Congenital cataract syndrome and hyperferritinemia].

  1999cites this paper
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  1999cites this paper
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  1999cites this paper
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  1999cites this paper
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  1999cites this paper
• Clinical Severity and Thermodynamic Effects of Iron-responsive Element Mutations in Hereditary Hyperferritinemia-Cataract Syndrome*

  1999cites this paper