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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2009-3-2
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pubmed:abstractText |
Elevated serum ferritin levels are frequently encountered in clinical situations and once iron overload or inflammation has been ruled out, many cases remain unexplained. Genetic causes of hyperferritinemia associated to early cataract include mutations in the iron responsive element in the 5' untranslated region of the L ferritin mRNA, responsible for the hereditary hyperferritinemia cataract syndrome.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-10784516,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-10828006,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-11849230,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-11923255,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-12730114,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-14615366,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-15737889,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-15842597,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-16790936,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-1714455,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-17970701,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-19252171,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-3678489,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-378539,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-477186,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-6176386,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-7340818,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-7363568,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-7492760,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-7493028,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-8558554,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-8695634,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-8710843,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19176363-9596665
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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 |
Mar
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pubmed:issn |
1592-8721
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pubmed:author |
pubmed-author:Bardou-JacquetEdouardE,
pubmed-author:BeaumontCaroleC,
pubmed-author:BrissotPierreP,
pubmed-author:DeugnierYvesY,
pubmed-author:GrandchampBernardB,
pubmed-author:HenryDominiqueD,
pubmed-author:HetetGillesG,
pubmed-author:JouanolleAnne-MarieAM,
pubmed-author:KannengiesserCarolineC,
pubmed-author:MornetMartineM,
pubmed-author:MosserAnnickA,
pubmed-author:MuzeauFrançoiseF
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pubmed:issnType |
Electronic
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pubmed:volume |
94
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
335-9
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:19176363-Adolescent,
pubmed-meshheading:19176363-Adult,
pubmed-meshheading:19176363-Aged,
pubmed-meshheading:19176363-Aged, 80 and over,
pubmed-meshheading:19176363-Amino Acid Sequence,
pubmed-meshheading:19176363-Apoferritins,
pubmed-meshheading:19176363-Child,
pubmed-meshheading:19176363-Family Health,
pubmed-meshheading:19176363-Female,
pubmed-meshheading:19176363-Ferritins,
pubmed-meshheading:19176363-Glycosylation,
pubmed-meshheading:19176363-Heterozygote,
pubmed-meshheading:19176363-Humans,
pubmed-meshheading:19176363-Iron Overload,
pubmed-meshheading:19176363-Male,
pubmed-meshheading:19176363-Middle Aged,
pubmed-meshheading:19176363-Models, Molecular,
pubmed-meshheading:19176363-Molecular Sequence Data,
pubmed-meshheading:19176363-Mutation, Missense,
pubmed-meshheading:19176363-Pedigree,
pubmed-meshheading:19176363-Protein Structure, Secondary,
pubmed-meshheading:19176363-Young Adult
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pubmed:year |
2009
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pubmed:articleTitle |
A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.
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pubmed:affiliation |
AP-HP, Service de Génétique et Biochimie hormonale, Hôpital Bichat Claude Bernard, Paris, France.
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pubmed:publicationType |
Journal Article
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