Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm
Author:
Funder
National Health and Medical Research Council
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
http://link.springer.com/content/pdf/10.1186/s12882-019-1474-z.pdf
Reference29 articles.
1. Hemmelgarn BR, Manns BJ, Lloyd A, James MT, Klarenbach S, Quinn RR, et al. Relation between kidney function, proteinuria, and adverse outcomes. Jama. 2010;303(5):423–9.
2. Rabbani B, Mahdieh N, Hosomichi K, Nakaoka H, Inoue I. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders. J Hum Genet. 2012;57(10):621–32.
3. Lata S, Marasa M, Li Y, Fasel DA, Groopman E, Jobanputra V, et al. Whole-exome sequencing in adults with chronic kidney disease: a pilot study. Ann Intern Med. 2018;168(2):100–9.
4. Wierenga KJ, Jiang Z, Yang AC, Mulvihill JJ, Tsinoremas NF. A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents. Genet Med. 2013;15(5):354-60.
5. Little MH, Quinlan C. Advances in our understanding of genetic kidney disease using kidney organoids. Pediatr Nephrol. 2019. https://doi.org/10.1007/s00467-019-04259-x . [Epub ahead of print].
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