Linked Life Data

21848006

Source:http://linkedlifedata.com/resource/pubmed/id/21848006

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2011-8-18
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1015-8146
pubmed:author
pubmed:issnType
Print
pubmed:volume
22
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
143-53
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome.
pubmed:affiliation
Department of Medical Genetics, Abant Izzet Baysal University Izzet Baysal Medical School, Bolu-Turkey. esratug@hotmail.com
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't