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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2005-3-24
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pubmed:abstractText |
The hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare autosomal dominant disorder due to mutations affecting the iron responsive element (IRE) of the L-ferritin mRNA. We report on a new mutation, 43G > A, in the loop of the stem-loop structure of the L-ferritin IRE in the proband of a pedigree with early-onset bilateral cataracts.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1552-4825
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
134A
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
77-9
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pubmed:dateRevised |
2010-12-3
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pubmed:meshHeading |
pubmed-meshheading:15690351-Base Sequence,
pubmed-meshheading:15690351-Cataract,
pubmed-meshheading:15690351-DNA Mutational Analysis,
pubmed-meshheading:15690351-Female,
pubmed-meshheading:15690351-Ferritins,
pubmed-meshheading:15690351-Humans,
pubmed-meshheading:15690351-Iron,
pubmed-meshheading:15690351-Iron Metabolism Disorders,
pubmed-meshheading:15690351-Male,
pubmed-meshheading:15690351-Middle Aged,
pubmed-meshheading:15690351-Mutation,
pubmed-meshheading:15690351-Pedigree,
pubmed-meshheading:15690351-Response Elements,
pubmed-meshheading:15690351-Syndrome
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pubmed:year |
2005
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pubmed:articleTitle |
Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome.
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pubmed:affiliation |
Department of Medicine, Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports
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