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