Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.
作者信息
de Haan Amber, van Eerde Albertien M, Eijgelsheim Mark, Rump Patrick, van der Zwaag Bert, Hennekam Eric, Živná Martina, Kmoch Stanislav, Bleyer Anthony J, Kidd Kendrah, Vogt Liffert, Knoers Nine V A M, de Borst Martin H
机构信息
Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
出版信息
Kidney Int. 2023 May;103(5):986-989. doi: 10.1016/j.kint.2023.02.021. Epub 2023 Mar 22.
PMID:37085259
Abstract
摘要
Zotero 插件