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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2009-4-15
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pubmed:abstractText |
Alport syndrome is a clinically and genetically heterogeneous nephropathy characterized by glomerular basement membrane lesions often associated with hearing loss and ocular anomalies. While the X-linked and the autosomal recessive forms are well known, the autosomal dominant form is not well acknowledged.
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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 |
May
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pubmed:issn |
1460-2385
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pubmed:author |
pubmed-author:AmorosoAntonioA,
pubmed-author:ArtusoRosangelaR,
pubmed-author:BergesioFrancoF,
pubmed-author:BruttiniMirellaM,
pubmed-author:CarmelliniMarioM,
pubmed-author:Di CostanzoGiuseppinaG,
pubmed-author:FogazziGiovanni BattistaGB,
pubmed-author:GiachinoDanielaD,
pubmed-author:LongoIlariaI,
pubmed-author:ManciniRobertaR,
pubmed-author:MarcocciElenaE,
pubmed-author:MariFrancescaF,
pubmed-author:MartinhagoCiro DreschCD,
pubmed-author:PennesiMarcoM,
pubmed-author:RenieriAlessandraA,
pubmed-author:RombolàGiuseppeG,
pubmed-author:RosatelliCristinaC,
pubmed-author:SavoldiSilvanaS,
pubmed-author:SilengoMargherita CirilloMC,
pubmed-author:UlianaVeraV,
pubmed-author:ZerialMarlenkaM
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pubmed:issnType |
Electronic
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pubmed:volume |
24
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1464-71
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pubmed:meshHeading |
pubmed-meshheading:19129241-Aged,
pubmed-meshheading:19129241-Collagen Type IV,
pubmed-meshheading:19129241-Diagnosis, Differential,
pubmed-meshheading:19129241-Female,
pubmed-meshheading:19129241-Frameshift Mutation,
pubmed-meshheading:19129241-Hematuria,
pubmed-meshheading:19129241-Heterozygote,
pubmed-meshheading:19129241-Humans,
pubmed-meshheading:19129241-Male,
pubmed-meshheading:19129241-Middle Aged,
pubmed-meshheading:19129241-Mutation,
pubmed-meshheading:19129241-Mutation, Missense,
pubmed-meshheading:19129241-Nephritis, Hereditary,
pubmed-meshheading:19129241-Pedigree,
pubmed-meshheading:19129241-Polymorphism, Genetic,
pubmed-meshheading:19129241-Prognosis
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pubmed:year |
2009
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pubmed:articleTitle |
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
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pubmed:affiliation |
Medical Genetics, Department of Molecular Biology, University of Siena, Siena, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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