A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease

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dc.contributor.authorAli, Hamad
dc.contributor.authorHussain, Naser
dc.contributor.authorNaim, Medhat
dc.contributor.authorZayed, Mohamed
dc.contributor.authorAl-Mulla, Fahd
dc.contributor.authorKehinde, Elijah
dc.contributor.authorSeaburg, Lauren
dc.contributor.authorSundsbak, Jamie
dc.contributor.authorHarris, Peter
dc.date.accessioned2016-11-21T05:44:30Z
dc.date.available2016-11-21T05:44:30Z
dc.date.issued2015
dc.description.abstractAutosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide. ADPKD shows significant intrafamilial phenotypic variability in the rate of disease progression and extra-renal manifestations, which suggests the involvement of heritable modifier genes. Here we show that the PKD1 gene can act as a disease causing and a disease modifier gene in ADPKD patients.ru_RU
dc.identifier.urihttp://nur.nu.edu.kz/handle/123456789/1900
dc.language.isoenru_RU
dc.publisherAli et al. BMC Nephrologyru_RU
dc.rightsAttribution-NonCommercial-ShareAlike 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/3.0/us/*
dc.subjectpolycystic kidney diseaseru_RU
dc.subjectADPKDru_RU
dc.subjectPKD1ru_RU
dc.subjectESRDru_RU
dc.subjectNovel variantru_RU
dc.subjectGenetic modifierru_RU
dc.subjecteGFRru_RU
dc.subjectPKD1ru_RU
dc.subjectResearch Subject Categories::MEDICINEru_RU
dc.titleA novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Diseaseru_RU
dc.typeArticleru_RU

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