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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
26
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pubmed:dateCreated |
2007-12-27
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pubmed:abstractText |
COL4A3, COL4A4, and COL4A5 are the only collagen genes that have been implicated in inherited nephropathies in humans. However, the causative genes for a number of hereditary multicystic kidney diseases, myopathies with cramps, and heritable intracranial aneurysms remain unknown.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1533-4406
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pubmed:author |
pubmed-author:AlamowitchSoniaS,
pubmed-author:AntignacCorinneC,
pubmed-author:CohenSalomon YvesSY,
pubmed-author:DesmettreThomasT,
pubmed-author:DraconMichelM,
pubmed-author:FardeauMichelM,
pubmed-author:GribouvalOlivierO,
pubmed-author:KerjaschkiDontschoD,
pubmed-author:MarroBéatriceB,
pubmed-author:MougenotBéatriceB,
pubmed-author:PlaisierEmmanuelleE,
pubmed-author:ProstCatherineC,
pubmed-author:RoncoPierreP,
pubmed-author:RoulletEtienneE,
pubmed-author:Van AgtmaelTomT,
pubmed-author:VerpontMarie ChristineMC
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pubmed:copyrightInfo |
Copyright 2007 Massachusetts Medical Society.
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pubmed:issnType |
Electronic
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pubmed:day |
27
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pubmed:volume |
357
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2687-95
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pubmed:meshHeading |
pubmed-meshheading:18160688-Abnormalities, Multiple,
pubmed-meshheading:18160688-Basement Membrane,
pubmed-meshheading:18160688-Collagen Type IV,
pubmed-meshheading:18160688-Female,
pubmed-meshheading:18160688-Genetic Diseases, Inborn,
pubmed-meshheading:18160688-Hematuria,
pubmed-meshheading:18160688-Humans,
pubmed-meshheading:18160688-Intracranial Aneurysm,
pubmed-meshheading:18160688-Kidney Diseases, Cystic,
pubmed-meshheading:18160688-Male,
pubmed-meshheading:18160688-Muscle Cramp,
pubmed-meshheading:18160688-Mutation,
pubmed-meshheading:18160688-Pedigree,
pubmed-meshheading:18160688-Phenotype,
pubmed-meshheading:18160688-Syndrome,
pubmed-meshheading:18160688-Vascular Diseases
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pubmed:year |
2007
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pubmed:articleTitle |
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
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pubmed:affiliation |
INSERM Unité 702, Université Pierre et Marie Curie, Paris 6, Unités Mixtes de Recherche Scientifique 702, Assistance Publique-Hôpitaux de Paris, Hôpital Tenon, France. emmanuelle.plaisier@tnn.aphp.fr
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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