Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis

Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. Despite simultaneous screening of these genes being widely available, mutation detection still remains incomplete in a non-marginal portion of patients. Here, we applied whole-exom...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	PloS one 2017-06, Vol.12 (6), p.e0178630-e0178630
Hauptverfasser:	Chiereghin, Chiara, Robusto, Michela, Mastrangelo, Antonio, Castorina, Pierangela, Montini, Giovanni, Giani, Marisa, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alport syndrome Biology and Life Sciences Clonal deletion Collagen Deactivation Deoxyribonucleic acid Diagnosis Disease DNA Exome Exome sequencing Exon skipping Female Females Functional analysis Gene deletion Gene mutation Gene sequencing Genes Genetic counseling Genomes Genomics HEK293 Cells Hereditary nephritis Humans Inactivation Kidney transplantation Male Medicine and Health Sciences Middle Aged Missense mutation Mutation Nephritis, Hereditary - genetics Patients Pedigree Research and analysis methods RNA Splicing Secretion Sequence Analysis - methods Splicing Young Adult
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!