15253708

Source:http://linkedlifedata.com/resource/pubmed/id/15253708

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0027726, umls-concept:C0034897, umls-concept:C0205251, umls-concept:C0242960, umls-concept:C0796357, umls-concept:C1421972
pubmed:issue	2
pubmed:dateCreated	2004-7-15
pubmed:abstractText	Mutations of NPHS2 are causative in familial autosomal-recessive (AR) and sporadic steroid-resistant nephrotic syndrome (SRNS). This study aimed to determine the spectrum of NPHS2 mutations and to establish genotype-phenotype correlations.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/F32-DK065409-01
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0323470
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Intracellular Signaling Peptides..., http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins, http://linkedlifedata.com/resource/pubmed/chemical/NPHS2 protein, http://linkedlifedata.com/resource/pubmed/chemical/Steroids
pubmed:status	MEDLINE
pubmed:month	Aug
pubmed:issn	0085-2538
pubmed:author	pubmed-author:AntignacCorinneC, pubmed-author:EsquivelErnie LEL, pubmed-author:GribouvalOlivierO, pubmed-author:LegendreChristopheC, pubmed-author:MorinièreVincentV, pubmed-author:NiaudetPatrickP, pubmed-author:TêteMarie-JosèpheMJ, pubmed-author:WeberStefanieS
pubmed:issnType	Print
pubmed:volume	66
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	571-9
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:15253708-Age of Onset, pubmed-meshheading:15253708-Child, pubmed-meshheading:15253708-Child, Preschool, pubmed-meshheading:15253708-Drug Resistance, pubmed-meshheading:15253708-Genetic Heterogeneity, pubmed-meshheading:15253708-Genetic Linkage, pubmed-meshheading:15253708-Heterozygote, pubmed-meshheading:15253708-Homozygote, pubmed-meshheading:15253708-Humans, pubmed-meshheading:15253708-Intracellular Signaling Peptides and Proteins, pubmed-meshheading:15253708-Kidney Transplantation, pubmed-meshheading:15253708-Membrane Proteins, pubmed-meshheading:15253708-Nephrotic Syndrome, pubmed-meshheading:15253708-Phenotype, pubmed-meshheading:15253708-Polymorphism, Genetic, pubmed-meshheading:15253708-Proteinuria, pubmed-meshheading:15253708-Recurrence, pubmed-meshheading:15253708-Steroids
pubmed:year	2004
pubmed:articleTitle	NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
pubmed:affiliation	Inserm U574, Necker-Enfants Malades Hospital, Paris 5 University, Paris, France.
pubmed:publicationType	Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't