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Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5

dc.contributor.authorTsiakkis, D.en
dc.contributor.authorPieri, Myrtanien
dc.contributor.authorKoupepidou, P.en
dc.contributor.authorDemosthenous, Panayiotaen
dc.contributor.authorPanayidou, K.en
dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.creatorTsiakkis, D.en
dc.creatorPieri, Myrtanien
dc.creatorKoupepidou, P.en
dc.creatorDemosthenous, Panayiotaen
dc.creatorPanayidou, K.en
dc.creatorConstantinou-Deltas, Constantinos D.en
dc.date.accessioned2019-11-04T12:52:47Z
dc.date.available2019-11-04T12:52:47Z
dc.date.issued2012
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/53423
dc.sourceClinical geneticsen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84865065124&doi=10.1111%2fj.1399-0004.2012.01849.x&partnerID=40&md5=b02cce2913f3377860591e310df038cf
dc.subjectFemaleen
dc.subjectMaleen
dc.subjecthumanen
dc.subjectHumansen
dc.subjectRegression Analysisen
dc.subjectalgorithmen
dc.subjectpriority journalen
dc.subjectprognosisen
dc.subjectpublicationen
dc.subjectgenotypeen
dc.subjectexonen
dc.subjectunclassified drugen
dc.subjectletteren
dc.subjectphenotypeen
dc.subjectgene mutationen
dc.subjectcollagen type 4en
dc.subjectkidney failureen
dc.subjectGenetic Association Studiesen
dc.subjectCollagen Type IVen
dc.subjectprotein domainen
dc.subjectamino acid substitutionen
dc.subjectmissense mutationen
dc.subjectMutation, Missenseen
dc.subjectAlport syndromeen
dc.subjectNephritis, Hereditaryen
dc.subjectbone developmenten
dc.subjectcol4a5 proteinen
dc.titleGenotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5en
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1111/j.1399-0004.2012.01849.x
dc.description.volume82
dc.description.startingpage297
dc.description.endingpage299
dc.author.facultyΣχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences
dc.author.departmentΤμήμα Βιολογικών Επιστημών / Department of Biological Sciences
dc.type.uhtypeArticleen
dc.description.notes<p>Cited By :8</p>en
dc.source.abbreviationClin.Genet.en
dc.contributor.orcidConstantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
dc.gnosis.orcid0000-0001-5549-9169


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