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COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

dc.contributor.authorVoskarides, Konstantinosen
dc.contributor.authorPapagregoriou, Gregoryen
dc.contributor.authorHadjipanagi, Despinaen
dc.contributor.authorPetrou, Ioanellien
dc.contributor.authorSavva, Isavellaen
dc.contributor.authorElia, Avraamen
dc.contributor.authorAthanasiou, Yiannisen
dc.contributor.authorPastelli, Androullaen
dc.contributor.authorKkolou, Mariaen
dc.contributor.authorHadjigavriel, Michalisen
dc.contributor.authorStavrou, Christoforosen
dc.contributor.authorPierides, Alkisen
dc.contributor.authorDeltas, Constantinosen
dc.creatorVoskarides, Konstantinosen
dc.creatorPapagregoriou, Gregoryen
dc.creatorHadjipanagi, Despinaen
dc.creatorPetrou, Ioanellien
dc.creatorSavva, Isavellaen
dc.creatorElia, Avraamen
dc.creatorAthanasiou, Yiannisen
dc.creatorPastelli, Androullaen
dc.creatorKkolou, Mariaen
dc.creatorHadjigavriel, Michalisen
dc.creatorStavrou, Christoforosen
dc.creatorPierides, Alkisen
dc.creatorDeltas, Constantinosen
dc.date.accessioned2021-01-22T09:29:00Z
dc.date.available2021-01-22T09:29:00Z
dc.date.issued2018
dc.identifier.issn1471-2369
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/61937
dc.description.abstractAbout 40–50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic spectrum of these patients varies a lot, ranging from isolated MH or MH plus low-grade proteinuria to chronic renal failure of variable degree, including end-stage renal disease (ESRD).en
dc.sourceBMC Nephrologyen
dc.source.urihttps://doi.org/10.1186/s12882-018-0906-5
dc.titleCOL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?en
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1186/s12882-018-0906-5
dc.description.volume19
dc.description.issue1
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.source.abbreviationBMC Nephrologyen
dc.contributor.orcidDeltas, Constantinos [0000-0001-5549-9169]
dc.gnosis.orcid0000-0001-5549-9169


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