Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.Alport syndrome (AS) is an inherited disorder and clinically characterized by glomerulonephritis and end-stage kidney disease (ESRD).  Exome sequencing was conducted in four patients of the family, and then direct sequencing was performed in other members of the pedigree. 
exome sequencing
Exome sequencing was conducted in four patients of the family, and then direct sequencing was performed in other members of the pedigree. 
direct sequencing