article_metadata: Chiara Chiereghin Michela Robusto Antonio Mastrangelo Pierangela Castorina Giovanni Montini Marisa Giani Stefano Duga Rosanna Asselta Giulia Soldà
article_metadata: 10.1371/journal.pone.0178630
article_metadata: PLoS One
article_metadata: 2017 Jun 1;12(6):e0178630.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/28570636/
article_metadata: Exome Mutation Nephritis, Hereditary / genetics Sequence Analysis / methods
article_metadata: Exome Mutation Nephritis, Hereditary / genetics Sequence Analysis / methods Case Reports Adult Female HEK293 Cells Humans Male Middle Aged Pedigree RNA Splicing Young Adult
article_metadata: PMC5453569
article_metadata: 28570636
article_metadata: Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis
article_metadata: 2017