15635077

Source:http://linkedlifedata.com/resource/pubmed/id/15635077

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0010691, umls-concept:C0026882, umls-concept:C0031437, umls-concept:C0233820, umls-concept:C0678227, umls-concept:C0728826, umls-concept:C0728938, umls-concept:C2717879
pubmed:issue	1
pubmed:dateCreated	2005-1-6
pubmed:abstractText	To clarify the genotype-phenotype correlation and elucidate the role of digenic inheritance in cystinuria.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-10391915, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-10493835, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-10737983, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-11157794, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-11260385, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-11704550, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-11748844, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-12036192, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-12060600, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-12167606, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-12234283, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-12234930, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-12239244, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-12371955, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-12779097, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-12820697, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-12824367, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-12915471, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-12923163, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-1376925, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-14531788, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-7067099, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-7573036, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-7789946, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-8054986, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-8463902, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-8486766, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-8731106, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-8792820, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-895195, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-9042921, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-9042922, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-9083097, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-9648062, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-9648063, http://linkedlifedata.com/resource/pubmed/commentcorrection/15635077-9768685
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Amino Acid Transport Systems, Basic, http://linkedlifedata.com/resource/pubmed/chemical/Amino Acid Transport Systems..., http://linkedlifedata.com/resource/pubmed/chemical/SLC3A1 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/SLC7A9 protein, human
pubmed:status	MEDLINE
pubmed:month	Jan
pubmed:issn	1468-6244
pubmed:author	pubmed-author:BiscegliaLL, pubmed-author:Di PernaMM, pubmed-author:Font-LlitjósMM, pubmed-author:Jiménez-VidalMM, pubmed-author:NunesVV, pubmed-author:PalacínMM, pubmed-author:RousaudFF, pubmed-author:ZelanteLL, pubmed-author:de SanctisLL
pubmed:issnType	Electronic
pubmed:volume	42
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	58-68
pubmed:dateRevised	2009-11-18
pubmed:meshHeading	pubmed-meshheading:15635077-Amino Acid Transport Systems, Basic, pubmed-meshheading:15635077-Amino Acid Transport Systems, Neutral, pubmed-meshheading:15635077-Cystinuria, pubmed-meshheading:15635077-DNA Mutational Analysis, pubmed-meshheading:15635077-Genotype, pubmed-meshheading:15635077-Heterozygote Detection, pubmed-meshheading:15635077-Humans, pubmed-meshheading:15635077-Mutation, pubmed-meshheading:15635077-Phenotype
pubmed:year	2005
pubmed:articleTitle	New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
pubmed:affiliation	Centre of Medical and Molecular Genetics (IRO), Hospital Duran i Reynals, Barcelona, Spain.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't