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Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

dc.contributor.authorLoirat, Chantal
dc.contributor.authorGuay-Woodford, Lisa M.
dc.contributor.authorHall, Michelle
dc.contributor.authorMacher, Marie-Alice
dc.contributor.authorSoulami, Kenza
dc.contributor.authorStefanidis, Constantinos J.
dc.contributor.authorWeiss, Robert
dc.contributor.authorGubler, Marie-Claire
dc.contributor.authorBilge, Ilmay
dc.contributor.authorAntignac, Corinne
dc.contributor.authorBoyer, Olivia
dc.contributor.authorBenoit, Genevieve
dc.contributor.authorGribouval, Olivier
dc.contributor.authorNevo, Fabien
dc.contributor.authorPawtowski, Audrey
dc.contributor.authorBircan, Zelal
dc.contributor.authorDeschenes, Georges
dc.date.accessioned2021-03-04T15:04:28Z
dc.date.available2021-03-04T15:04:28Z
dc.date.issued2010
dc.identifier.citationBoyer O., Benoit G., Gribouval O., Nevo F., Pawtowski A., Bilge I., Bircan Z., Deschenes G., Guay-Woodford L. M. , Hall M., et al., "Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome", JOURNAL OF MEDICAL GENETICS, cilt.47, sa.7, ss.445-452, 2010
dc.identifier.issn0022-2593
dc.identifier.othervv_1032021
dc.identifier.otherav_84d1b320-7811-4403-b981-972149fedc64
dc.identifier.urihttp://hdl.handle.net/20.500.12627/90335
dc.identifier.urihttps://doi.org/10.1136/jmg.2009.076166
dc.description.abstractBackground Mutations in the PLCE1 gene encoding phospholipase C epsilon 1 (PLC31) have been recently described in patients with early onset nephrotic syndrome (NS) and diffuse mesangial sclerosis (DMS). In addition, two cases of PLCE1 mutations associated with focal segmental glomerulosclerosis (FSGS) and later NS onset have been reported.
dc.language.isoeng
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.subjectTemel Bilimler
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri
dc.subjectYaşam Bilimleri (LIFE)
dc.titleMutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome
dc.typeMakale
dc.relation.journalJOURNAL OF MEDICAL GENETICS
dc.contributor.departmentAssistance Publique Hopitaux Paris (APHP) , ,
dc.identifier.volume47
dc.identifier.issue7
dc.identifier.startpage445
dc.identifier.endpage452
dc.contributor.firstauthorID196823


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