rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
3
|
pubmed:dateCreated |
2002-10-9
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pubmed:abstractText |
Cystinuria is the second most frequent autosomal recessively inherited disorder in Europe, and it is based on a disturbance of the transepithelial transport of cystine and amino acids in the proximal renal tubule as well as in the intestinum. From the point of view of the urologist, patients suffering from cystine stones represent an important population because they develop a great number of recurrences which necessitate frequent stone removal.
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pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
IM
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pubmed:chemical |
|
pubmed:status |
MEDLINE
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pubmed:issn |
0042-1138
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pubmed:author |
|
pubmed:copyrightInfo |
Copyright 2002 S. Karger AG, Basel
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pubmed:issnType |
Print
|
pubmed:volume |
69
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
207-11
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:12372889-Blotting, Southern,
pubmed-meshheading:12372889-Carrier Proteins,
pubmed-meshheading:12372889-Cohort Studies,
pubmed-meshheading:12372889-Cystinuria,
pubmed-meshheading:12372889-DNA Mutational Analysis,
pubmed-meshheading:12372889-Female,
pubmed-meshheading:12372889-Gene Expression Regulation,
pubmed-meshheading:12372889-Genetic Testing,
pubmed-meshheading:12372889-Genome,
pubmed-meshheading:12372889-Humans,
pubmed-meshheading:12372889-Male,
pubmed-meshheading:12372889-Membrane Transport Proteins,
pubmed-meshheading:12372889-Molecular Biology,
pubmed-meshheading:12372889-Mutation,
pubmed-meshheading:12372889-Point Mutation,
pubmed-meshheading:12372889-Prospective Studies,
pubmed-meshheading:12372889-Sensitivity and Specificity
|
pubmed:year |
2002
|
pubmed:articleTitle |
Genomic and functional investigations of mutations of the SLC3A1 gene in cystinuria.
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pubmed:affiliation |
Department of Urology, University of Tübingen, Germany. sven.lahme@med.uni-tuebingen.de
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pubmed:publicationType |
Journal Article,
Comparative Study
|