| pubmed-article:15086897 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:15086897 | lifeskim:mentions | umls-concept:C0012634 | lld:lifeskim |
| pubmed-article:15086897 | lifeskim:mentions | umls-concept:C0262926 | lld:lifeskim |
| pubmed-article:15086897 | lifeskim:mentions | umls-concept:C0332119 | lld:lifeskim |
| pubmed-article:15086897 | lifeskim:mentions | umls-concept:C0678226 | lld:lifeskim |
| pubmed-article:15086897 | lifeskim:mentions | umls-concept:C1567741 | lld:lifeskim |
| pubmed-article:15086897 | lifeskim:mentions | umls-concept:C1332774 | lld:lifeskim |
| pubmed-article:15086897 | lifeskim:mentions | umls-concept:C1413585 | lld:lifeskim |
| pubmed-article:15086897 | lifeskim:mentions | umls-concept:C0175860 | lld:lifeskim |
| pubmed-article:15086897 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:15086897 | pubmed:dateCreated | 2004-4-16 | lld:pubmed |
| pubmed-article:15086897 | pubmed:abstractText | Alport syndrome is a clinically and genetically heterogeneous nephropathy. The majority of cases are transmitted as an X-linked semidominant condition due to COL4A5 mutations. In this form males are more severely affected than females. Less than 10% of cases are autosomal recessive due to mutation in either COL4A3 or COL4A4. In this rarer form, both males and females are severely affected. Only two cases of autosomal-dominant Alport syndrome have been reported, one due to a COL4A3 mutation and the other due to a COL4A4 mutation. Because of the paucity of the reported families, the natural history of autosomal-dominant Alport syndrome is mostly unknown. | lld:pubmed |
| pubmed-article:15086897 | pubmed:language | eng | lld:pubmed |
| pubmed-article:15086897 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15086897 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:15086897 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15086897 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15086897 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15086897 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15086897 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:15086897 | pubmed:month | May | lld:pubmed |
| pubmed-article:15086897 | pubmed:issn | 0085-2538 | lld:pubmed |
| pubmed-article:15086897 | pubmed:author | pubmed-author:SeriMarcoM | lld:pubmed |
| pubmed-article:15086897 | pubmed:author | pubmed-author:LongoIlariaI | lld:pubmed |
| pubmed-article:15086897 | pubmed:author | pubmed-author:RenieriAlessa... | lld:pubmed |
| pubmed-article:15086897 | pubmed:author | pubmed-author:GusmanoRosann... | lld:pubmed |
| pubmed-article:15086897 | pubmed:author | pubmed-author:MariFrancesca... | lld:pubmed |
| pubmed-article:15086897 | pubmed:author | pubmed-author:MigliettiNunz... | lld:pubmed |
| pubmed-article:15086897 | pubmed:author | pubmed-author:BresinElenaE | lld:pubmed |
| pubmed-article:15086897 | pubmed:author | pubmed-author:PescucciChiar... | lld:pubmed |
| pubmed-article:15086897 | pubmed:author | pubmed-author:VogiatziParas... | lld:pubmed |
| pubmed-article:15086897 | pubmed:author | pubmed-author:CaselliRossel... | lld:pubmed |
| pubmed-article:15086897 | pubmed:author | pubmed-author:ScalaElisaE | lld:pubmed |
| pubmed-article:15086897 | pubmed:author | pubmed-author:AbaterussoCat... | lld:pubmed |
| pubmed-article:15086897 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:15086897 | pubmed:volume | 65 | lld:pubmed |
| pubmed-article:15086897 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:15086897 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:15086897 | pubmed:pagination | 1598-603 | lld:pubmed |
| pubmed-article:15086897 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:15086897 | pubmed:meshHeading | pubmed-meshheading:15086897... | lld:pubmed |
| pubmed-article:15086897 | pubmed:meshHeading | pubmed-meshheading:15086897... | lld:pubmed |
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| pubmed-article:15086897 | pubmed:year | 2004 | lld:pubmed |
| pubmed-article:15086897 | pubmed:articleTitle | Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. | lld:pubmed |
| pubmed-article:15086897 | pubmed:affiliation | Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy. | lld:pubmed |
| pubmed-article:15086897 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:15086897 | pubmed:publicationType | Case Reports | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:15086897 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:15086897 | lld:pubmed |
