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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2011-7-26
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pubmed:abstractText |
Accurate diagnosis of the primary cause of an individual's kidney disease can be essential for proper management. Some kidney diseases have overlapping histopathologic features despite being caused by defects in different genes. In this report, we describe 2 consanguineous Saudi Arabian families in which individuals presented with kidney failure and mixed clinical and histologic features initially believed to be consistent with focal segmental glomerulosclerosis.
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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 |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1523-6838
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pubmed:author |
pubmed-author:AdraChaker NCN,
pubmed-author:Al-JondubiMohammedM,
pubmed-author:Al-ManeaHadeelH,
pubmed-author:Al-MojalliHamadH,
pubmed-author:Al-OthmanSalehS,
pubmed-author:Al-RodayyanMahaM,
pubmed-author:Al-RomaihKhaldoun IKI,
pubmed-author:Al-SuleimanMohammedM,
pubmed-author:AtallahNourahN,
pubmed-author:GenoveseGiulioG,
pubmed-author:PollakMartin RMR,
pubmed-author:WeinsAstridA
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pubmed:copyrightInfo |
Copyright © 2011 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
58
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
186-95
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pubmed:meshHeading |
pubmed-meshheading:21658830-Adolescent,
pubmed-meshheading:21658830-Adult,
pubmed-meshheading:21658830-Child,
pubmed-meshheading:21658830-Consanguinity,
pubmed-meshheading:21658830-Female,
pubmed-meshheading:21658830-Homozygote,
pubmed-meshheading:21658830-Humans,
pubmed-meshheading:21658830-Kidney Diseases,
pubmed-meshheading:21658830-Male,
pubmed-meshheading:21658830-Pedigree,
pubmed-meshheading:21658830-Sequence Analysis, DNA
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pubmed:year |
2011
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pubmed:articleTitle |
Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-exome sequencing.
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pubmed:affiliation |
Stem Cell Therapy Program, King Faisal Specialist Hospital & Research Centre, Riyadh, Kingdom of Saudi Arabia.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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