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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 |
2006-2-22
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pubmed:abstractText |
Alport syndrome (ATS) is a progressive inherited nephropathy characterized by irregular thinning, thickening and splitting of the glomerular basement membrane (GBM) often associated with hearing loss and ocular symptoms. ATS has been shown to be caused by COL4A5 mutations in its X-linked form and by COL4A3 and COL4A4 mutations in its autosomal forms.
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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 |
0931-0509
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pubmed:author |
pubmed-author:BorochowitzZvi-UriZU,
pubmed-author:BresinElenaE,
pubmed-author:CaringellaDomenica AngelaDA,
pubmed-author:CaselliRossellaR,
pubmed-author:GianiMarisaM,
pubmed-author:LongoIlariaI,
pubmed-author:MariFrancescaF,
pubmed-author:MeloniIlariaI,
pubmed-author:MencarelliMaria AntoniettaMA,
pubmed-author:PescucciChiaraC,
pubmed-author:RenieriAlessandraA,
pubmed-author:ScalaElisaE,
pubmed-author:SiriwardenaKomudiK,
pubmed-author:SpecialeCaterinaC,
pubmed-author:WinshipIngridI
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pubmed:issnType |
Print
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pubmed:volume |
21
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pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
665-71
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:16338941-Adolescent,
pubmed-meshheading:16338941-Adult,
pubmed-meshheading:16338941-Autoantigens,
pubmed-meshheading:16338941-Child,
pubmed-meshheading:16338941-Chromatography, High Pressure Liquid,
pubmed-meshheading:16338941-Collagen Type IV,
pubmed-meshheading:16338941-DNA,
pubmed-meshheading:16338941-Epitopes,
pubmed-meshheading:16338941-Female,
pubmed-meshheading:16338941-Genotype,
pubmed-meshheading:16338941-Humans,
pubmed-meshheading:16338941-Infectious Disease Transmission, Vertical,
pubmed-meshheading:16338941-Male,
pubmed-meshheading:16338941-Middle Aged,
pubmed-meshheading:16338941-Mutation,
pubmed-meshheading:16338941-Nephritis, Hereditary,
pubmed-meshheading:16338941-Pedigree
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pubmed:year |
2006
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|
pubmed:articleTitle |
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
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pubmed:affiliation |
Department of Molecular Biology, University of Siena, Italy.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Case Reports
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