| pubmed-article:21848006 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:21848006 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:21848006 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:21848006 | lifeskim:mentions | umls-concept:C1567741 | lld:lifeskim |
| pubmed-article:21848006 | lifeskim:mentions | umls-concept:C1413586 | lld:lifeskim |
| pubmed-article:21848006 | lifeskim:mentions | umls-concept:C0796345 | lld:lifeskim |
| pubmed-article:21848006 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:21848006 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:21848006 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:21848006 | pubmed:dateCreated | 2011-8-18 | lld:pubmed |
| pubmed-article:21848006 | pubmed:abstractText | Alport syndrome (AS) is a renal disease that is characterized by proteinuria and progressive renal failure, and often accompanied by sensorineural hearing loss and ocular changes. Mutations in the genes encoding for three members of the type IV collagen protein family have been found to be the cause of the disease. We describe a large Turkish family with X-linked AS. We performed linkage analysis in this family and sequencing to identify the mutation in the proband whose disease was confirmed by renal biopsy. | lld:pubmed |
| pubmed-article:21848006 | pubmed:language | eng | lld:pubmed |
| pubmed-article:21848006 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21848006 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:21848006 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21848006 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21848006 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21848006 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:21848006 | pubmed:issn | 1015-8146 | lld:pubmed |
| pubmed-article:21848006 | pubmed:author | pubmed-author:PerkinN ENE | lld:pubmed |
| pubmed-article:21848006 | pubmed:author | pubmed-author:PalaEE | lld:pubmed |
| pubmed-article:21848006 | pubmed:author | pubmed-author:TurRR | lld:pubmed |
| pubmed-article:21848006 | pubmed:author | pubmed-author:BaysoyGG | lld:pubmed |
| pubmed-article:21848006 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:21848006 | pubmed:volume | 22 | lld:pubmed |
| pubmed-article:21848006 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:21848006 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:21848006 | pubmed:pagination | 143-53 | lld:pubmed |
| pubmed-article:21848006 | pubmed:meshHeading | pubmed-meshheading:21848006... | lld:pubmed |
| pubmed-article:21848006 | pubmed:meshHeading | pubmed-meshheading:21848006... | lld:pubmed |
| pubmed-article:21848006 | pubmed:meshHeading | pubmed-meshheading:21848006... | lld:pubmed |
| pubmed-article:21848006 | pubmed:meshHeading | pubmed-meshheading:21848006... | lld:pubmed |
| pubmed-article:21848006 | pubmed:meshHeading | pubmed-meshheading:21848006... | lld:pubmed |
| pubmed-article:21848006 | pubmed:meshHeading | pubmed-meshheading:21848006... | lld:pubmed |
| pubmed-article:21848006 | pubmed:meshHeading | pubmed-meshheading:21848006... | lld:pubmed |
| pubmed-article:21848006 | pubmed:meshHeading | pubmed-meshheading:21848006... | lld:pubmed |
| pubmed-article:21848006 | pubmed:meshHeading | pubmed-meshheading:21848006... | lld:pubmed |
| pubmed-article:21848006 | pubmed:meshHeading | pubmed-meshheading:21848006... | lld:pubmed |
| pubmed-article:21848006 | pubmed:meshHeading | pubmed-meshheading:21848006... | lld:pubmed |
| pubmed-article:21848006 | pubmed:meshHeading | pubmed-meshheading:21848006... | lld:pubmed |
| pubmed-article:21848006 | pubmed:meshHeading | pubmed-meshheading:21848006... | lld:pubmed |
| pubmed-article:21848006 | pubmed:meshHeading | pubmed-meshheading:21848006... | lld:pubmed |
| pubmed-article:21848006 | pubmed:meshHeading | pubmed-meshheading:21848006... | lld:pubmed |
| pubmed-article:21848006 | pubmed:meshHeading | pubmed-meshheading:21848006... | lld:pubmed |
| pubmed-article:21848006 | pubmed:year | 2011 | lld:pubmed |
| pubmed-article:21848006 | pubmed:articleTitle | Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome. | lld:pubmed |
| pubmed-article:21848006 | pubmed:affiliation | Department of Medical Genetics, Abant Izzet Baysal University Izzet Baysal Medical School, Bolu-Turkey. esratug@hotmail.com | lld:pubmed |
| pubmed-article:21848006 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:21848006 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:21848006 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:1287 | entrezgene:pubmed | pubmed-article:21848006 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:21848006 | lld:entrezgene |
