| pubmed-article:15690351 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:15690351 | lifeskim:mentions | umls-concept:C0020792 | lld:lifeskim |
| pubmed-article:15690351 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:15690351 | lifeskim:mentions | umls-concept:C1833213 | lld:lifeskim |
| pubmed-article:15690351 | lifeskim:mentions | umls-concept:C0391764 | lld:lifeskim |
| pubmed-article:15690351 | lifeskim:mentions | umls-concept:C1522538 | lld:lifeskim |
| pubmed-article:15690351 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:15690351 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:15690351 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:15690351 | pubmed:dateCreated | 2005-3-24 | lld:pubmed |
| pubmed-article:15690351 | 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. | lld:pubmed |
| pubmed-article:15690351 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15690351 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15690351 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15690351 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15690351 | pubmed:language | eng | lld:pubmed |
| pubmed-article:15690351 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15690351 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:15690351 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15690351 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15690351 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:15690351 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:15690351 | pubmed:issn | 1552-4825 | lld:pubmed |
| pubmed-article:15690351 | pubmed:author | pubmed-author:PhillipsJohn... | lld:pubmed |
| pubmed-article:15690351 | pubmed:author | pubmed-author:KushnerJames... | lld:pubmed |
| pubmed-article:15690351 | pubmed:author | pubmed-author:WarbyChristy... | lld:pubmed |
| pubmed-article:15690351 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:15690351 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:15690351 | pubmed:volume | 134A | lld:pubmed |
| pubmed-article:15690351 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:15690351 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:15690351 | pubmed:pagination | 77-9 | lld:pubmed |
| pubmed-article:15690351 | pubmed:dateRevised | 2010-12-3 | lld:pubmed |
| pubmed-article:15690351 | pubmed:meshHeading | pubmed-meshheading:15690351... | lld:pubmed |
| pubmed-article:15690351 | pubmed:meshHeading | pubmed-meshheading:15690351... | lld:pubmed |
| pubmed-article:15690351 | pubmed:meshHeading | pubmed-meshheading:15690351... | lld:pubmed |
| pubmed-article:15690351 | pubmed:meshHeading | pubmed-meshheading:15690351... | lld:pubmed |
| pubmed-article:15690351 | pubmed:meshHeading | pubmed-meshheading:15690351... | lld:pubmed |
| pubmed-article:15690351 | pubmed:meshHeading | pubmed-meshheading:15690351... | lld:pubmed |
| pubmed-article:15690351 | pubmed:meshHeading | pubmed-meshheading:15690351... | lld:pubmed |
| pubmed-article:15690351 | pubmed:meshHeading | pubmed-meshheading:15690351... | lld:pubmed |
| pubmed-article:15690351 | pubmed:meshHeading | pubmed-meshheading:15690351... | lld:pubmed |
| pubmed-article:15690351 | pubmed:meshHeading | pubmed-meshheading:15690351... | lld:pubmed |
| pubmed-article:15690351 | pubmed:meshHeading | pubmed-meshheading:15690351... | lld:pubmed |
| pubmed-article:15690351 | pubmed:meshHeading | pubmed-meshheading:15690351... | lld:pubmed |
| pubmed-article:15690351 | pubmed:meshHeading | pubmed-meshheading:15690351... | lld:pubmed |
| pubmed-article:15690351 | pubmed:meshHeading | pubmed-meshheading:15690351... | lld:pubmed |
| pubmed-article:15690351 | pubmed:year | 2005 | lld:pubmed |
| pubmed-article:15690351 | pubmed:articleTitle | Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome. | lld:pubmed |
| pubmed-article:15690351 | pubmed:affiliation | Department of Medicine, Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA. | lld:pubmed |
| pubmed-article:15690351 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:15690351 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:15690351 | pubmed:publicationType | Case Reports | lld:pubmed |
