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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 |
2003-10-8
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pubmed:abstractText |
Cystinuria is an inherited disorder of defective renal reabsorption of cystine and the dibasic amino acids. Recently, SLC3A1 and SLC7A9 have been identified as responsible genes. While point mutations in the two genes are well known to cause cystinuria, only a few studies are aimed on the identification of gross genomic alterations. Here, we report our results of a systematic screening for deletions and duplications in SLC3A1 and SLC7A9 by quantitative real-time polymerase chain reaction (PCR).
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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 |
Nov
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pubmed:issn |
0085-2538
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
64
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1564-72
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:14531788-Amino Acid Transport Systems, Basic,
pubmed-meshheading:14531788-Base Sequence,
pubmed-meshheading:14531788-Carrier Proteins,
pubmed-meshheading:14531788-Cystinuria,
pubmed-meshheading:14531788-Gene Deletion,
pubmed-meshheading:14531788-Gene Duplication,
pubmed-meshheading:14531788-Gene Rearrangement,
pubmed-meshheading:14531788-Genotype,
pubmed-meshheading:14531788-Humans,
pubmed-meshheading:14531788-Introns,
pubmed-meshheading:14531788-Membrane Glycoproteins,
pubmed-meshheading:14531788-Molecular Sequence Data,
pubmed-meshheading:14531788-Nucleic Acid Conformation,
pubmed-meshheading:14531788-Polymerase Chain Reaction,
pubmed-meshheading:14531788-Reproducibility of Results
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pubmed:year |
2003
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pubmed:articleTitle |
Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria.
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pubmed:affiliation |
Institute of Human Genetics, Technical University of Aachen, Aachen, Germany. cschmidt@ujaachen.de
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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